List Of Syndromes
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This is an alphabetically sorted list of medical
syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...
s. starting with numbers. #
13q deletion syndrome 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary ...
# 17q21.31 microdeletion syndrome #
1p36 deletion syndrome 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial ...
# 1q21.1 deletion syndrome #
1q21.1 duplication syndrome 1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1. In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 duplication syndrome one chromosom ...
# 22q11.2 distal deletion syndrome # 22q11.2 duplication syndrome #
22q13 deletion syndrome 22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that present ...
# 2p15-16.1 microdeletion syndrome # 2q37 deletion syndrome #
3-M syndrome 3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McK ...
# 3C syndrome #
3q29 microdeletion syndrome 3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005. Presentation The clinical phenotype of 3q29 microdeletion syndrome is variable. Clini ...
# 49,XXXXY # 4D syndrome # 8p23.1 duplication syndrome # 9q34 deletion syndrome


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# Aagenaes syndrome # Aarskog–Scott syndrome # Aase syndrome #
Abandoned child syndrome Abandoned child syndrome is a proposed behavioral or psychological condition that is said to result from the loss of one or both parents. Abandonment may be physical or emotional; that is, the parent may abandon the child by failing to be presen ...
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ABCD syndrome Albinism-black lock-cell migration disorder (ABCD syndrome) is the initialism for the following terms and concepts that describe a condition affecting a person's physical appearance and physiology: (1) A – albinism, (2) B – black lock of hai ...
# Abdallat–Davis–Farrage syndrome # Abderhalden–Kaufmann–Lignac syndrome #
Abdominal compartment syndrome Abdominal compartment syndrome (ACS) occurs when the abdomen becomes subject to increased pressure reaching past the point of intra-abdominal hypertension (IAH). ACS is present when intra-abdominal pressure rises and is sustained at > 20 mmHg and ...
# abdominal wall pain syndrome # Ablepharon macrostomia syndrome # Abruzzo–Erickson syndrome # Achard syndrome # Achard–Thiers syndrome #
Ackerman syndrome Ackerman syndrome or interstitial granulomatous dermatitis is a familial syndrome of fused molar roots with a single canal ( taurodontism), hypotrichosis, full upper lip without a cupid's bow, thickened and wide philtrum, and occasional juvenile gl ...
# Acorea, microphthalmia and cataract syndrome #
Acrocallosal syndrome Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrom ...
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Acropectoral syndrome Acropectoral syndrome is an autosome, autosomal dominance (genetics), dominant skeletal dysplasia syndrome affecting the hands, feet, Human sternum, sternum, and lumbosacral Vertebral column, spine. A recently proposed candidate gene for preaxial p ...
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Acro–dermato–ungual–lacrimal–tooth syndrome Acro–dermato–ungual–lacrimal–tooth syndrome (ADULT syndrome) is a rare genetic disease. It is an autosomal dominant form of ectodermal dysplasia, a group of disorders that affects the hair, teeth, nails, sweat glands, and extremities. Th ...
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Activation syndrome Activation syndrome is a form of stimulation (sometimes suicidal) or agitation that has been observed in association with some psychoactive drugs. A causative role has not been established. Pfizer has denied that sertraline can cause such effec ...
# Acute aortic syndrome # Acute brain syndrome # Acute chest syndrome #
Acute coronary syndrome Acute coronary syndrome (ACS) is a syndrome (a set of signs and symptoms) due to decreased blood flow in the coronary arteries such that part of the heart muscle is unable to function properly or dies. The most common symptom is centrally l ...
# Acute HME syndrome # Acute interstitial pneumonitis #
Acute motor axonal neuropathy Acute motor axonal neuropathy (AMAN) is a variant of Guillain–Barré syndrome. It is characterized by acute paralysis and loss of reflexes without sensory loss. Pathologically, there is motor axonal degeneration with antibody-mediated attac ...
# acute platelet activation syndrome # Acute radiation syndrome #
Acute respiratory distress syndrome Acute respiratory distress syndrome (ARDS) is a type of respiratory failure characterized by rapid onset of widespread inflammation in the lungs. Symptoms include shortness of breath (dyspnea), rapid breathing (tachypnea), and bluish skin colo ...
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Acute retroviral syndrome Acute may refer to: Science and technology * Acute angle ** Acute triangle ** Acute, a leaf shape in the glossary of leaf morphology * Acute (medicine), a disease that it is of short duration and of recent onset. ** Acute toxicity, the adverse ef ...
# Adams–Nance syndrome #
Adams–Oliver syndrome Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin. Signs and symptoms Two key features of AOS are ...
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Adams–Stokes syndrome Stokes–Adams syndrome or Adams–Stokes syndrome is a periodic fainting spell in which there is intermittent complete heart block or other high-grade arrhythmia that results in loss of spontaneous circulation and inadequate blood flow to the bra ...
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Adducted thumb syndrome Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the conditio ...
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Adie syndrome Adie syndrome, also known as Holmes-Adie syndrome, is a neurological disorder characterized by a tonically dilated pupil that reacts slowly to light but shows a more definite response to accommodation (i.e., light-near dissociation). It is fr ...
# Adiposogenital dystrophy # Adult-onset immunodeficiency syndrome #
Advanced sleep phase disorder Advanced Sleep Phase Disorder (ASPD), also known as the advanced sleep-phase type (ASPT) of circadian rhythm sleep disorder, is a condition that is characterized by a recurrent pattern of early evening (e.g. 7-9 PM) sleepiness and very early morn ...
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Aerotoxic syndrome Aerotoxic syndrome relates to ill-health effects that are claimed to be caused by breathing contaminated airliner cabin air. This condition is not an established medical diagnosis. Potential sources of contamination Modern jetliners have envi ...
# Afferent loop syndrome # Aicardi syndrome #
Aicardi–Goutières syndrome Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disor ...
# AIDS dysmorphic syndrome # Al-Raqad syndrome #
Alagille syndrome Alagille syndrome is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and ...
# Albinism–deafness syndrome #
Alcohol withdrawal syndrome Alcohol withdrawal syndrome (AWS) is a set of symptoms that can occur following a reduction in alcohol use after a period of excessive use. Symptoms typically include anxiety, shakiness, sweating, vomiting, fast heart rate, and a mild fever. Mo ...
# Alezzandrini syndrome # Alice in Wonderland syndrome #
Alien hand syndrome Alien hand syndrome (AHS) or Dr. Strangelove syndrome is a category of conditions in which a person experiences their limbs acting seemingly on their own, without conscious control over the actions. There are a variety of clinical conditions that ...
# Allan–Herndon–Dudley syndrome # Allopurinol hypersensitivity syndrome # Alopecia contractures dwarfism mental retardation syndrome # Alpha-thalassemia mental retardation syndrome #
Alport syndrome Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect ...
# Alström syndrome #
Alvarez' syndrome Alvarez' syndrome is a medical disorder in which the abdomen becomes bloated without any obvious reason, such as intestinal gas Flatulence, in humans, is the expulsion of gas from the intestines via the anus, commonly referred to as farting. ...
# Amennorrhea-galactorrhea syndrome #
Amniotic band constriction Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect names. It is a malformation due to intrauterine bands or rings that give deep grooves in, ...
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Amotivational syndrome Amotivational syndrome is a chronic psychiatric disorder characterized by signs that are linked to cognitive and emotional states such as detachment, blunted emotion and drives, executive functions like memory and attention, disinterest, passivi ...
# Amplified musculoskeletal pain syndromes # Andermann syndrome # Andersen–Tawil syndrome #
Androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction. It affects 1 in 20,000 to 64,000 XY ( karyotypically male) births. The condition results in the partial ...
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Angelman syndrome Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no ...
# ANOTHER syndrome # Anterior cerebral artery syndrome # Anterior compartment syndrome #
Anterior cutaneous nerve entrapment syndrome Anterior cutaneous nerve entrapment syndrome (ACNES) is a nerve entrapment condition that causes chronic pain of the abdominal wall. It occurs when nerve endings of the lower thoracic intercostal nerves (7–12) are 'entrapped' in abdominal musc ...
# Anterior interosseous syndrome # Anterior spinal artery syndrome # Anticonvulsant hypersensitivity syndrome #
Antidepressant discontinuation syndrome Antidepressant discontinuation syndrome, also called antidepressant withdrawal syndrome, is a condition that can occur following the interruption, reduction, or discontinuation of antidepressant medication following its continuous use of at lea ...
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Antiphospholipid syndrome Antiphospholipid syndrome, or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune, hypercoagulable state caused by antiphospholipid antibodies. APS provokes blood clots (thrombosis) in both arteries and veins as well as pregnancy-r ...
# Antisynthetase syndrome # Antley–Bixler syndrome # Anton–Babinski syndrome # Aortic arch syndrome # Aortocaval compression syndrome # Apert syndrome #
Apparent mineralocorticoid excess syndrome Apparent mineralocorticoid excess is an autosomal recessive disorder causing hypertension (high blood pressure), hypernatremia (increased blood sodium concentration) and hypokalemia (decreased blood potassium concentration). It results from mutat ...
# Arakawa's syndrome II # Ardalan–Shoja–Kiuru syndrome # AREDYLD syndrome # Aromatase excess syndrome #
Arterial tortuosity syndrome Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. It is associated with hyperextensible skin and hypermobility ...
# Arthrogryposis–renal dysfunction–cholestasis syndrome # Arts syndrome # Ascher's syndrome # Asherman's syndrome #
Asperger syndrome Asperger syndrome (AS), also known as Asperger's, is a former neurodevelopmental disorder characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of beha ...
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Asymmetric crying facies Asymmetric crying facies (ACF), also called partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles th ...
# Ataxia-pancytopenia syndrome # Ataxia-telangiectasia #
Athletic heart syndrome Athletic heart syndrome (AHS) is a non-pathological condition commonly seen in sports medicine in which the human heart is enlarged, and the resting heart rate is lower than normal. The athlete's heart is associated with physiological cardiac ...
# Athymhormic syndrome # ATR-16 syndrome # Atrophodermia vermiculata # Atypical hemolytic uremic syndrome # Austrian syndrome #
Autoimmune disease An autoimmune disease is a condition arising from an abnormal immune response to a functioning body part. At least 80 types of autoimmune diseases have been identified, with some evidence suggesting that there may be more than 100 types. Nearly a ...
# Autoimmune lymphoproliferative syndrome #
Autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome). It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherite ...
# Autoimmune polyendocrine syndrome type 2 # Autoimmune polyendocrine syndrome type 3 #
Autoimmune polyendocrine syndrome Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs) or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one e ...
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Autoinflammatory syndromes Periodic fever syndromes are a set of disorders characterized by recurrent episodes of systemic and organ-specific inflammation. Unlike autoimmune disorders such as systemic lupus erythematosus, in which the disease is caused by abnormalities of t ...
# Avellis syndrome #
Axenfeld syndrome Axenfeld or Aksenfeld may refer to: *Israel Aksenfeld (aka Israel Axenfeld / Yisroel Aksenfeld, 1787-1866), a German writer *Karl Theodor Paul Polykarpus Axenfeld (1867-1930), a German ophthalmologist *Karl Theodor Georg Axenfeld (1869-1924), a Ger ...
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Axial spondyloarthritis Axial spondyloarthritis (also often referred to as axSpA) is a chronic, autoinflammatory disease predominantly affecting the axial skeleton (sacroiliac joints and spine). The best-known member of the axial spondyloarthritis disease family is ankyl ...
# Ayazi syndrome


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# Babinski–Nageotte syndrome # Baboon syndrome #
Baggio–Yoshinari syndrome The Baggio–Yoshinari syndrome , formerly known as the Brazilian Lyme-like disease and Brazilian human borreliosis, is a disease transmitted by the '' Amblyomma cajennense'' tick, but the organism that causes the infection is still unknown. Clini ...
# Baller–Gerold syndrome # Bamforth–Lazarus syndrome # Bangstad syndrome #
Bannayan–Riley–Ruvalcaba syndrome Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner. The dis ...
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Banti's syndrome Banti's syndrome (also known as Banti's disease), named for Guido Banti, is a chronic congestive enlargement of the spleen resulting in premature destruction of the red blood cells by the spleen. Presentation Enlargement of spleen, ascites, ja ...
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Barakat syndrome Barakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It was first described by Amin J. Barakat et al. in 1977. Presentation It is a genetic deve ...
# Barakat-Perenthaler syndrome #
Bardet–Biedl syndrome Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction i ...
# Bare lymphocyte syndrome type II # Bare lymphocyte syndrome # Barlow's syndrome # Barraquer–Simons syndrome #
Bart syndrome Bart syndrome, also known as aplasia cutis congenita type VI, is a rare genetic disorder characterized by the association of congenital localized absence of skin, mucocutaneous blistering and absent and dystrophic nails. History This clinical tr ...
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Barth Syndrome Barth syndrome (BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and ...
# Bartter syndrome #
Bart–Pumphrey syndrome Bart–Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and deafness") is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal, proximal and distal interphala ...
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Bassen-Kornzweig syndrome Abetalipoproteinemia (also known as: Bassen-Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder that interferes with the normal absorption of fat ...
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Battered person syndrome Battered woman syndrome (BWS) is a pattern of signs and symptoms displayed by a woman who has suffered persistent intimate partner violence: whether psychological, physical, or sexual, from her male partner. It is classified in the ICD-9 (cod ...
# Bazex–Dupré–Christol syndrome # Beare–Stevenson cutis gyrata syndrome #
Beckwith–Wiedemann syndrome Beckwith–Wiedemann syndrome (; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (97th centile) * Macroglossia * Hemihyperpl ...
# Behcet's syndrome #
Behr syndrome Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. Although it is an autosomal recessive disorder ...
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Benedikt syndrome Benedikt syndrome, also called Benedikt's syndrome or paramedian midbrain syndrome, is a rare type of posterior circulation stroke of the brain, with a range of neurological symptoms affecting the midbrain, cerebellum and other related structures. ...
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Benign fasciculation syndrome Benign fasciculation syndrome (BFS) is characterized by fasciculation (twitching) of voluntary muscles in the body. The twitching can occur in any voluntary muscle group but is most common in the eyelids, arms, hands, fingers, legs, and feet. The ...
# Benjamin syndrome #
Benzodiazepine withdrawal syndrome Benzodiazepine withdrawal syndrome often abbreviated to benzo withdrawal or BZD withdrawal is the cluster of signs and symptoms that may emerge when a person who has been taking benzodiazepines, either medically or recreationally develops a p ...
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Berdon syndrome Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is an autosomal recessive fatal genetic disorder affecting newborns. In a 2011 study of 227 children with the syndrome, "the oldest survivor ...
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Berk–Tabatznik syndrome Berk–Tabatznik syndrome is a medical condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found. See also * Heart-han ...
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Bernard–Soulier syndrome Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the '' glycoprotein Ib-IX-V complex'' (GPIb-IX-V), the receptor for von Willebrand factor. The incidence of BSS is estimated to be ...
# Berserk llama syndrome #
Bhaskar–Jagannathan syndrome Bhaskar–Jagannathan syndrome is an extremely rare genetic disorder and there is a limited amount of information related to it. Similar or related medical conditions are arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and ...
# Biemond syndrome # Bilious vomiting syndrome # Binder's syndrome # Bing–Neel syndrome # Birt–Hogg–Dubé syndrome # Björnstad syndrome # Bland-White-Garland syndrome # Blau syndrome #
Blepharophimosis, ptosis, epicanthus inversus syndrome Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare disease characterized by the conditions it is named after: blepharophimosis, ptosis and epicanthus inversus. There are two types; type 1 is distinguished from type 2 by in ...
# Blind loop syndrome #
Bloom syndrome Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the '' BLM'' ge ...
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Blount's disease Blount's disease (or Blount disease) is a growth disorder of the tibia (shin bone) which causes the lower leg to angle inward, resembling a bowleg. It is also known as "tibia vara". Description and risk factors Blount disease is a growth disorder ...
# Blue baby syndrome #
Blue diaper syndrome Blue diaper syndrome is a rare, autosomal recessive or X linked recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is also known as Drummond's syndrome, and hypercalcemia. It is caused by a defect in trypt ...
# Blue rubber bleb nevus syndrome # Blue toe syndrome # Bobble-head doll syndrome # Body fat redistribution syndrome # Boehm syndrome # Boerhaave syndrome #
Bogart–Bacall syndrome Bogart–Bacall syndrome (BBS) is a voice disorder that is caused by abuse or overuse of the vocal cords. People who speak or sing outside their normal vocal range can develop BBS; symptoms are chiefly an unusually deep or rough voice, or dysphoni ...
# Bohring–Opitz syndrome # Bonnet–Dechaume–Blanc syndrome # Bowen–Conradi syndrome #
Brachycephalic airway obstructive syndrome Brachycephalic airway obstructive syndrome (BAOS) is a pathological condition affecting short nosed dogs and cats which can lead to severe respiratory distress. There are four different anatomical abnormalities that contribute to the disease, al ...
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Brainstem stroke syndrome A brainstem stroke syndrome falls under the broader category of stroke syndromes, or specific symptoms caused by vascular injury to an area of brain (for example, the lacunar syndromes). As the brainstem contains numerous cranial nuclei and white ...
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Branchio-oculo-facial syndrome Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's development before birth. Symptoms of this condition include skin abnormali ...
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Branchio-oto-renal syndrome Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome. Signs and symptoms The signs and symptoms of branchio-oto-renal syndro ...
# Bromism # Brown's syndrome #
Brown-Séquard syndrome Brown-Séquard syndrome (also known as Brown-Séquard's hemiplegia, Brown-Séquard's paralysis, hemiparaplegic syndrome, hemiplegia et hemiparaplegia spinalis, or spinal hemiparaplegia) is caused by damage to one half of the spinal cord, i.e. hem ...
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Brown–Vialetto–Van Laere syndrome Brown-Vialetto-Van-Laere syndrome (BVVL), sometimes known as Brown's Syndrome, is a rare degenerative disorder often initially characterized by progressive sensorineural deafness. The syndrome most often affects children, adolescents, and youn ...
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Bruck syndrome Bruck syndrome is characterized as the combination of arthrogryposis multiplex congenita and osteogenesis imperfecta. Both diseases are uncommon, but concurrence is extremely rare which makes Bruck syndrome very difficult to research. Bruck syndrom ...
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Brugada syndrome Brugada syndrome (BrS) is a genetic disorder in which the electrical activity of the heart is abnormal due to channelopathy. It increases the risk of abnormal heart rhythms and sudden cardiac death. Those affected may have episodes of synco ...
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Brunner syndrome Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania, hypersexuality and violence), sleep dis ...
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Budd–Chiari syndrome Budd–Chiari syndrome is a very rare condition, affecting one in a million adults. The condition is caused by occlusion of the hepatic veins that drain the liver. It presents with the classical triad of abdominal pain, ascites, and liver enlar ...
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Burning feet syndrome Burning feet syndrome, also known as Grierson-Gopalan syndrome, is a medical condition that causes severe burning and aching of the feet, hyperesthesia, and vasomotor changes of the feet that lead to excessive sweating. It can even affect the eyes ...
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Burning mouth syndrome Burning mouth syndrome (BMS) is a burning, tingling or scalding sensation in the mouth, lasting for at least four to six months, with no underlying known dental or medical cause. No related signs of disease are found in the mouth. People with ...
# Burnside–Butler syndrome #
Buschke–Ollendorff syndrome Buschke–Ollendorff syndrome (BOS) is a rare genetic disorder associated with LEMD3. It is believed to be inherited in an autosomal dominant manner. It is named for Abraham Buschke and Helene Ollendorff Curth, who described it in a 45-year-old w ...
# Bálint's syndrome # Börjeson-Forssman-Lehmann syndrome


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CADASIL CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the '' Notch 3'' g ...
# Camera-Marugo-Cohen syndrome # CAMFAK syndrome # Camptodactyly-arthropathy-coxa vara-pericarditis syndrome # Cancer syndrome #
Cancer-related fatigue Cancer-related fatigue is a symptom of fatigue that is experienced by nearly all cancer patients. Among patients receiving cancer treatment other than surgery, it is essentially universal. Fatigue is a normal and expected side effect of most for ...
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CANDLE syndrome Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autosomal recessive disorder that presents itself via various autoinflammatory responses throughout the body, multiple types of skin lesion ...
# Canine epileptoid cramping syndrome #
Cannabinoid hyperemesis syndrome Cannabinoid hyperemesis syndrome (CHS) is recurrent nausea, vomiting, and cramping abdominal pain that can occur due to prolonged, high-dose cannabis use. These symptoms may be relieved temporarily by taking a hot shower or bath. Complications ...
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Cantú syndrome Cantú syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.Initial posting 2014 Less than 50 cases have been described in the literature; they are associated with a mutation in the ''ABCC9''-gene ...
# Capgras delusion #
Capgras syndrome Capgras delusion or Capgras syndrome is a psychiatric disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member (or pet) has been replaced by an identical impostor. It is named after Joseph Capgras ( ...
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Capillary leak syndrome Capillary leak syndrome, or vascular leak syndrome, is characterized by the escape of blood plasma through capillary walls, from the blood circulatory system to surrounding tissues, muscle compartments, organs or body cavities. It is a phenomenon ...
# Caplan's syndrome #
Carcinoid syndrome Carcinoid syndrome is a paraneoplastic syndrome comprising the signs and symptoms that occur secondary to carcinoid tumors. The syndrome includes flushing and diarrhea, and less frequently, heart failure, vomiting and bronchoconstriction. It ...
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Cardiac syndrome X Microvascular angina, previously known as cardiac syndrome X, is angina (chest pain) with signs associated with decreased blood flow to heart tissue but with normal coronary arteries. The use of the term CSX can lead to the lack of appreciation of ...
# Cardiofaciocutaneous syndrome # Cardiorenal syndrome # Cardiovascular syndrome #
Carney complex Carney complex and its subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin ( lentiginosis), and endocrine overactivity. It is distinct from Carney's tria ...
# Caroli disease #
Carpal tunnel syndrome Carpal tunnel syndrome (CTS) is the collection of symptoms and signs associated with median neuropathy at the carpal tunnel. Most CTS is related to idiopathic compression of the median nerve as it travels through the wrist at the carpal tunn ...
# Carpenter syndrome # Cat eye syndrome #
Cataract-microcornea syndrome The cataract-microcornea syndrome is the association of congenital cataract and microcornea. Genetics Mutations in ABCA3 ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ''ABCA3'' gene. The membrane-a ...
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Catastrophic antiphospholipid syndrome Catastrophic antiphospholipid syndrome (CAPS), also known as Asherson's syndrome, is a rare autoimmune disease in which widespread, intravascular clotting causes multi-organ failure. The syndrome is caused by antiphospholipid antibodies that targ ...
# Catel–Manzke syndrome #
Cauda equina syndrome Cauda equina syndrome (CES) is a condition that occurs when the bundle of nerves below the end of the spinal cord known as the cauda equina is damaged. Signs and symptoms include low back pain, pain that radiates down the leg, numbness around ...
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Caudal regression syndrome Caudal regression syndrome, or sacral agenesis (or hypoplasia of the sacrum), is a rare birth defect. It is a congenital disorder in which the fetal development of the lower spine—the caudal partition of the spine—is abnormal. It occurs at a ...
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CDK13-related disorder CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intel ...
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Celebrity worship syndrome Celebrity worship syndrome (CWS) is an obsessive love, obsessive addictive personality, addictive disorder in which a person becomes overly involved with the details of a celebrity's personal and professional life. Psychologists have indicated that ...
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Central centrifugal cicatricial alopecia Central centrifugal cicatricial alopecia (CCCA), is a type of alopecia first noticed in African Americans in the 1950s and reported by LoPresti et al. in 1968 as a result of application of petrolatum followed by a stove-heated iron comb. The origi ...
# Central cord syndrome # Central nervous system syndrome # Central pain syndrome # Cerebellar cognitive affective syndrome #
Cerebellar stroke syndrome Cerebellar stroke syndrome is a condition in which the circulation to the cerebellum is impaired due to a lesion of the superior cerebellar artery, anterior inferior cerebellar artery or the posterior inferior cerebellar artery. Cardinal signs i ...
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Cerebellopontine angle syndrome The cerebellopontine angle syndrome is a distinct neurological syndrome of deficits that can arise due to the closeness of the cerebellopontine angle to specific cranial nerves.Rolak LA. ''Neurology Secrets'', 4th Ed. Chapter 10, "Cerebellar Dis ...
# Cerebral salt-wasting syndrome # cervical disc syndrome # Cervical syndrome # Cervicocranial syndrome #
Charcot–Marie–Tooth disease Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most ...
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CHARGE syndrome CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart ...
# Charles Bonnet syndrome # Chiari–Frommel syndrome # Chiasmal syndrome # Chilaiditi syndrome #
Child sexual abuse accommodation syndrome Child sexual abuse accommodation syndrome (CSAAS) is a syndrome proposed by Roland C. Summit in 1983 to describe how he believed sexually abused children responded to ongoing sexual abuse. He said children "learn to accept the situation and to sur ...
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CHILD syndrome Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in Gener ...
# childhood myelodysplastic syndrome # Childhood tumor syndrome #
Chinese Restaurant Syndrome Glutamate flavoring is the generic name for flavor-enhancing compounds based on glutamic acid and its salts (glutamates). These compounds provide an umami (savory) taste to food. Glutamic acid and glutamates are natural constituents of man ...
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Chromosomal deletion syndrome Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndrom ...
# Chromosome 5q deletion syndrome #
Chronic fatigue syndrome Chronic fatigue syndrome (CFS), also called myalgic encephalomyelitis (ME) or ME/CFS, is a complex, debilitating, long-term medical condition. The causes and mechanisms of the disease are not fully understood. Distinguishing core symptoms are ...
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Chronic functional abdominal pain Chronic functional abdominal pain (CFAP) or functional abdominal pain syndrome (FAPS) is the ongoing presence of abdominal pain for which there is no known medical explanation, and has the potential to interfere with all aspects of daily functioni ...
# Chronic infantile neurologic cutaneous and articular syndrome # Chronic Lyme disease # Chronic prostatitis/chronic pelvic pain syndrome # Churg–Strauss syndrome # Chédiak–Higashi syndrome #
Claude's syndrome Claude's syndrome is a form of brainstem stroke syndrome characterized by the presence of an ipsilateral oculomotor nerve palsy, contralateral hemiparesis, contralateral ataxia, and contralateral hemiplegia of the lower face, tongue, and shoulder ...
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Clinically isolated syndrome A clinically isolated syndrome (CIS) is a clinical situation of an individual's first neurological episode, caused by inflammation or demyelination of nerve tissue. An episode may be monofocal, in which symptoms present at a single site in the cen ...
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CLOVES syndrome CLOVES syndrome is a rare overgrowth syndrome with complex vascular anomalies. CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. It ...
# COACH syndrome # Cobb syndrome #
Cockayne syndrome Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight ( photo ...
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Coffin–Lowry syndrome Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities. ...
# Coffin–Siris syndrome #
Cogan syndrome Cogan syndrome (also Cogan's syndrome) is a rare disorder characterized by recurrent inflammation of the front of the eye (the cornea) and often fever, fatigue, and weight loss, episodes of vertigo (dizziness), tinnitus (ringing in the ears) and he ...
# Cohen syndrome #
Compartment syndrome Compartment syndrome is a condition in which increased pressure within one of the body's anatomical compartments results in insufficient blood supply to tissue within that space. There are two main types: acute and chronic. Compartments of the ...
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Complement deficiency Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins. Because of redundancies in the immune system, many complement disorders are never diagnosed. Some studies estimate that less ...
# Complete androgen insensitivity syndrome #
Complex regional pain syndrome Complex regional pain syndrome (CRPS) is any of several painful conditions that are characterized by a continuing (spontaneous and/or evoked) regional pain that is seemingly disproportionate in time or degree to the usual course of any known trau ...
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Computer vision syndrome Computer vision syndrome (CVS) is a condition resulting from focusing the eyes on a computer or other display device for protracted, uninterrupted periods of time and the eye's muscles being unable to recover from the constant tension required to ...
# Congenital bilateral perisylvian syndrome #
Congenital generalized lipodystrophy Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. It is a type of lipodystophy disord ...
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Congenital insensitivity to pain Congenital insensitivity to pain (CIP), also known as congenital analgesia, is one or more extraordinarily rare conditions in which a person cannot feel (and has never felt) physical pain. The conditions described here are separate from the HSAN ...
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Congenital myasthenic syndrome Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction. The effects of the disease are similar to Lambert-Eaton Syndrome and myasthenia gravis, the difference ...
# Congenital nephrotic syndrome # Congenital rubella syndrome #
Conn's syndrome Primary aldosteronism (PA)'','' also known as primary hyperaldosteronism or Conn's syndrome, refers to the excess production of the hormone aldosterone from the adrenal glands, resulting in low renin levels and high blood pressure. This abnormalit ...
# Conorenal syndrome #
Conradi–Hünermann syndrome Conradi–Hünermann syndrome is a rare type of chondrodysplasia punctata. It is associated with the EBP gene and affects between one in 100,000 and one in 200,000 babies. Signs and symptoms Possible signs and symptoms may include Genetics Co ...
# Constriction ring syndrome # Contiguous gene syndrome # Conus medullaris syndrome # Cooks syndrome # Cord colitis syndrome # Corneal-cerebellar syndrome # Corneal dystrophy-perceptive deafness syndrome #
Cornelia de Lange Syndrome Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with this syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. The syndrome has a widely varied phenotype, meaning people with the sy ...
# Corneodermatoosseous syndrome #
Coronary steal Coronary steal (with its symptoms termed coronary steal syndrome or cardiac steal syndrome) is a phenomenon where an alteration of circulation patterns leads to a reduction in the blood flow directed to the coronary circulation. It is caused when t ...
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Costeff syndrome Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the ''OPA3'' gene. It is typically associated with the onset of visual deterioration ( optic atrophy) in early childhood followed by the develo ...
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Costello syndrome Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and intellectual disabilities, distinctive facial features, unu ...
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Cotard delusion Cotard's syndrome, also known as Cotard's delusion or walking corpse syndrome, is a rare mental disorder in which the affected person holds the delusional belief that they are dead, do not exist, are putrefying, or have lost their blood or int ...
# Cotard's Syndrome #
Cotton fever Cotton fever is a condition that indicates as a fever that follows intravenous drug use where cotton is used to filter the drugs. The condition derives from an endotoxin released by the bacteria '' Pantoea agglomerans'' which lives in cotton pl ...
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Cowden syndrome Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, a ...
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Cracked tooth syndrome Cracked tooth syndrome (CTS) is where a tooth has incompletely cracked but no part of the tooth has yet broken off. Sometimes it is described as a greenstick fracture. The symptoms are very variable, making it a notoriously difficult condition to d ...
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Cramp fasciculation syndrome Cramp fasciculation syndrome (CFS) is a rare peripheral nerve hyperexcitability disorder. It is more severe than the related (and common) disorder known as benign fasciculation syndrome; it causes fasciculations, cramps, pain, fatigue, and muscle s ...
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Crandall syndrome Crandall syndrome is a very rare congenital disorder characterised by progressive sensorineural hearing loss, hair loss associated with pili torti Pili torti (singular pilus tortus; also known as "twisted hairs") is characterized by short and bri ...
# Craniosynostosis–anal anomalies–porokeratosis syndrome # Cranio-lenticulo-sutural dysplasia #
CREST syndrome CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc), is a multisystem connective tissue disorder. The acronym "CREST" refers to the five main features: calcinosis, Raynaud's phenomenon, esophageal dysmotility, ...
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Cri du chat Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term ("cat-cry" or " call of the cat") referring to the characteristic cat-like cry of affected children. It was first de ...
# Crigler–Najjar syndrome # Crome syndrome #
Cronkhite–Canada syndrome Cronkhite–Canada syndrome is a rare syndrome characterized by multiple polyps of the digestive tract. It is sporadic (i.e. it does not seem to be a hereditary disease), and it is currently considered acquired and idiopathic (i.e. cause remains un ...
# Cross syndrome #
Crouzon syndrome Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial ...
# Crouzonodermoskeletal syndrome #
Crush syndrome Crush syndrome (also traumatic rhabdomyolysis or Bywaters' syndrome) is a medical condition characterized by major shock and kidney failure after a crushing injury to skeletal muscle. Crush ''injury'' is compression of the arms, legs, or other p ...
# Cruveilhier-Baumgarten syndrome #
Cryopyrin-associated periodic syndrome Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin 1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes ...
# Cuboid syndrome #
Currarino syndrome Currarino syndrome is an inherited congenital disorder where either the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, or there is a mass in the presacral space in front of the sacrum, and there are malformati ...
# CuRRL syndrome #
Cushing's syndrome Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol. Signs and symptoms may include high blood pressure, abdominal obesity but with thin arms and legs, reddish stretch marks, a ...
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Cyclic vomiting syndrome Cyclic vomiting syndrome (CVS) is a chronic functional condition of unknown pathogenesis. CVS is characterized as recurring episodes lasting a single day to multiple weeks. Each episode is divided into four phases: inter-episodic, prodrome, vo ...
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Cytokine release syndrome Cytokine release syndrome (CRS) is a form of systemic inflammatory response syndrome (SIRS) that can be triggered by a variety of factors such as infections and certain drugs. It refers to cytokine storm syndromes (CSS) and occurs when large num ...


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Da Costa's syndrome Da Costa's syndrome (also known as "soldier's heart", cardiac neurosis, chronic asthenia, effort syndrome, functional cardiovascular disease, neurocirculatory asthenia, primary neurasthenia, subacute asthenia and irritable heart) is a psychiatri ...
# Daentl Townsend Siegel syndrome # Dahlberg Borer Newcomer syndrome # Dandy–Walker syndrome #
De Barsy syndrome De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities. It is usually progressive, manifesting side effects that can ...
# de Clérambault's syndrome # De Quervain syndrome # Dead arm syndrome #
Deficiency of the interleukin-1–receptor antagonist Deficiency of the interleukin-1–receptor antagonist (DIRA) is an autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in '' IL1RN'', the gene encoding the interleukin 1 receptor antagonist. The mutations result in a ...
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Degenerative disc disease Degenerative disc disease (DDD) is a medical condition typically brought on by the normal aging process in which there are anatomic changes and possibly a loss of function of one or more intervertebral discs of the spine. DDD can take place with ...
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Dejerine–Roussy syndrome Dejerine–Roussy syndrome or thalamic pain syndrome is a condition developed after a thalamic stroke, a stroke causing damage to the thalamus. Ischemic strokes and hemorrhagic strokes can cause lesioning in the thalamus. As initial stroke symptoms ...
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Delayed sleep phase disorder Delayed sleep phase disorder (DSPD), more often known as delayed sleep phase syndrome and also as delayed sleep–wake phase disorder, is a delaying of a person's circadian rhythm (biological clock) compared to those of societal norms. The diso ...
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Delusional misidentification syndrome Delusional misidentification syndrome is an umbrella term, introduced by Christodoulou (in his book ''The Delusional Misidentification Syndromes'', Karger, Basel, 1986) for a group of delusional disorders that occur in the context of mental and ...
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Delusional parasitosis Delusional parasitosis (DP) is a mental disorder in which individuals have a persistent belief that they are infested with living or nonliving pathogens such as parasites, insects, or bugs, when no such infestation is present. They usually report ...
# Dennie–Marfan syndrome # Dentomandibular sensorimotor dysfunction # Denys–Drash syndrome # DeSanctis–Cacchione syndrome # Descending perineum syndrome # Diabetic stiff hand syndrome # Dialysis disequilibrium syndrome # Diencephalic syndrome # Diffuse infiltrative lymphocytosis syndrome #
DiGeorge syndrome DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent i ...
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Diogenes syndrome Diogenes syndrome, also known as senile squalor syndrome, is a disorder characterized by extreme self-neglect, domestic squalor, social withdrawal, apathy, compulsive hoarding of garbage or animals, and a lack of shame. Affected people may also di ...
# Diploid triploid mosaic # Disconnection syndrome # Distal 18q- #
Distal intestinal obstruction syndrome Distal intestinal obstruction syndrome (DIOS) involves obstruction of the distal part of the small intestines by thickened intestinal content and occurs in about 20% of mainly adult individuals with cystic fibrosis. DIOS was previously known as ...
# Distal trisomy 10q # Doege–Potter syndrome # Donnai–Barrow syndrome #
Donohue syndrome Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. ''Leprechaunism'' derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the ...
# DOOR syndrome #
Dopamine dysregulation syndrome Dopamine dysregulation syndrome (DDS) is a dysfunction of the reward system observed in some individuals taking dopaminergic medications for an extended length of time. It typically occurs in people with Parkinson's disease (PD) who have taken d ...
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Down syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual d ...
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Dravet syndrome Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or feve ...
# Dressler syndrome #
Drug reaction with eosinophilia and systemic symptoms Drug reaction with eosinophilia and systemic symptoms (DRESS), also termed drug-induced hypersensitivity syndrome (DIHS), is a rare reaction to certain medications. It involves primarily a widespread skin rash, fever, swollen lymph nodes, and c ...
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Dry eye syndrome Dry eye syndrome (DES), also known as keratoconjunctivitis sicca (KCS), is the condition of having dry eyes. Other associated symptoms include irritation, redness, discharge, and easily fatigued eyes. Blurred vision may also occur. Symptoms range ...
# Duane syndrome # Duane-radial ray syndrome # Dubin–Johnson syndrome # Dubowitz syndrome #
Dumping syndrome Dumping syndrome occurs when food, especially sugar, moves too quickly from the stomach to the duodenum—the first part of the small intestine—in the upper gastrointestinal (GI) tract. This condition is also called rapid gastric emptying. It i ...
# dysarthria-clumsy hand syndrome #
Dysexecutive syndrome Dysexecutive syndrome (DES) consists of a group of symptoms, usually resulting from brain damage, that fall into cognitive, behavioural and emotional categories and tend to occur together. The term was introduced by Alan BaddeleyWilson, B.A., Evans, ...
# Dyskeratosis congenita #
Dysplastic nevus syndrome Dysplastic nevus syndrome, also known as familial atypical multiple mole–melanoma (FAMMM) syndrome, is an inherited cutaneous condition described in certain families, and characterized by unusual nevi and multiple inherited melanomas. First des ...


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Eagle syndrome Eagle syndrome (also termed stylohyoid syndrome, styloid syndrome, styloid-stylohyoid syndrome, or styloid–carotid artery syndrome) is a rare condition commonly characterized but not limited to sudden, sharp nerve-like pain in the jaw bone and ...
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EAST syndrome EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems). The tu ...
# Ectrodactyly–ectodermal dysplasia–cleft syndrome #
Edwards syndrome Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features inc ...
# EEM syndrome # Egg drop syndrome # Ehlers–Danlos syndrome # Eiken syndrome # Einstein syndrome # Eisenmenger's syndrome # Eldomery-Sutton syndrome #
Elejalde syndrome Elejalde syndrome or neuroectodermal melanolysosomal disease is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound central nervous system dysfunction, no immune defects, ...
# Ellis–van Creveld syndrome #
Emanuel syndrome Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder associated with multiple congenital anomalies, including profound intellectual disability, preauricular skin tags or pits, and conotruncal heart defect ...
# Empty nest syndrome # Empty nose syndrome #
Empty sella syndrome Empty sella syndrome is the condition when the pituitary gland shrinks or becomes flattened, filling the sella turcica with cerebrospinal fluid instead of the normal pituitary. It can be discovered as part of the diagnostic workup of pituitary di ...
# Enlarged vestibular aqueduct syndrome #
Environmental dependency syndrome Environmental dependency syndrome, also called Zelig syndrome or Zelig-like syndrome from the name of the protagonist of Woody Allen's ''Zelig'', is a syndrome where the affected individual relies on environmental cues in order to accomplish goal ...
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Eosinophilia–myalgia syndrome Eosinophilia–myalgia syndrome is a rare, sometimes fatal neurological condition linked to the ingestion of the dietary supplement L-tryptophan. The risk of developing EMS increases with larger doses of tryptophan and increasing age. Some resea ...
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Eosinophilic cellulitis Eosinophilic cellulitis, also known as Wells' syndrome (not to be confused with Weil's disease), is a skin disease that presents with painful, red, raised, and warm patches of skin. The rash comes on suddenly, lasts for a few weeks, and often r ...
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Epidermal nevus syndrome Epidermal nevus syndrome (also known as "Feuerstein and Mims syndrome", and "Solomon's syndrome"Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .) is a rare disease that was first described in 19 ...
# Epilepsy syndromes # Episodic dyscontrol syndrome # Epizootic ulcerative syndrome #
Erdheim–Chester disease Erdheim–Chester disease (ECD) is an extremely rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages (technically, this disease is termed a non- Langerhans ...
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Erondu–Cymet syndrome Erondu–Cymet syndrome is a syndrome caused by a translocation on the 21st chromosome. The genetic karyotype for people with this condition is 46, XY, inv(21)(q11.2q22.1). Findings in these patients include hypotension, hypoxemia, seizures, and ...
# Estrogen insensitivity syndrome # Euthyroid sick syndrome #
Evans syndrome Evans syndrome is an autoimmune disease in which an individual's immune system attacks their own red blood cells and platelets, the syndrome can include immune neutropenia. These immune cytopenias may occur simultaneously or sequentially. Its ...
# Excess ovarian androgen release syndrome #
Exploding head syndrome Exploding head syndrome (EHS) is an abnormal sensory perception during sleep in which a person experiences auditory hallucinations that are loud and of short duration when falling asleep or waking up. The noise may be frightening, typically occ ...
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Extrapyramidal symptoms Extrapyramidal symptoms (EPS) are symptoms that are archetypically associated with the extrapyramidal system of the brain's cerebral cortex. When such symptoms are caused by medications or other drugs, they are also known as extrapyramidal side ...


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# FACES syndrome # Facet syndrome # Facial Onset Sensory Motor Neuropathy syndrome #
Fahr's syndrome Primary Indiana familial brain calcification Initial Posting: April 18, 2004; Last Update: August 24, 2017. (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, is a rare, genetically dominant, inher ...
# Failed back syndrome # familial cholestasis syndrome #
Familial cold autoinflammatory syndrome Cold urticaria (essentially meaning cold hives) is a disorder in large red welts called hives (''urticaria'') form on the skin after exposure to a cold stimulus. The hives are usually itchy and often the hands and feet will become itchy and swolle ...
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Familial Mediterranean fever Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid protein called pyrin. While all ethnic groups are sus ...
# Familial partial lipodystrophy # Fanconi syndrome # Favre–Racouchot syndrome # Febrile infection-related epilepsy syndrome # Febrile neutrophilic dermatosis #
Fechtner syndrome Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions, macrothrombocytopenia,cause by mutation in the MYH9 gene on chromosome 22q11 AbstractThis study reports a family comprising four generations in whom nephriti ...
# Feingold syndrome # Feline hyperesthesia syndrome #
Felty's syndrome Felty's syndrome (FS), also called Felty syndrome, is rare autoimmune disease characterized by the triad of rheumatoid arthritis, enlargement of the spleen and low neutrophil count. The condition is more common in those aged 50–70 years, specifi ...
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Femur fibula ulna syndrome Femur-fibula-ulna syndrome (FFU syndrome) is a very rare syndrome characterized by abnormalities of the femur (thigh bone), fibula (calf bone) and the ulna The ulna (''pl''. ulnae or ulnas) is a long bone found in the forearm that stretches ...
# Fetal alcohol syndrome #
Fetal hydantoin syndrome Fetal hydantoin syndrome, also called fetal dilantin syndrome, is a group of defects caused to the developing fetus by exposure to teratogenic effects of phenytoin. Dilantin is the brand name of the drug phenytoin sodium in the United States, comm ...
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Fetal trimethadione syndrome Fetal trimethadione syndrome (also known as paramethadione syndrome, German syndrome, tridione syndrome, among others) is a set of birth defects caused by the administration of the anticonvulsants trimethadione (also known as Tridione) or paramet ...
# Fetal warfarin syndrome # FG syndrome # Fibrinolysis syndrome #
Fibromyalgia syndrome Fibromyalgia (FM) is a medical condition defined by the presence of chronic widespread pain, fatigue, waking unrefreshed, cognitive symptoms, lower abdominal pain or cramps, and depression. Other symptoms include insomnia and a general hype ...
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Fibromyalgia Fibromyalgia (FM) is a medical condition defined by the presence of chronic widespread pain, fatigue, waking unrefreshed, cognitive symptoms, lower abdominal pain or cramps, and depression. Other symptoms include insomnia and a general hyp ...
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First arch syndrome First arch syndromes are congenital defects caused by a failure of neural crest cells to migrate into the first pharyngeal arch.Ronald W. Dudek. High-Yield Embryology. 2e. Page 65. They can produce facial anomalies. Examples of first arch syndro ...
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Fish acute toxicity syndrome Fish acute toxicity syndrome (FATS) is a set of common chemical and functional responses in fish resulting from a short-term, acute exposure to a lethal concentration of a toxicant, a chemical or material that can produce an unfavorable effect in ...
# Fitz-Hugh–Curtis syndrome # Fitzsimmons–Guilbert syndrome #
Flammer syndrome Flammer syndrome is a described clinical entity comprising a complex of clinical features caused mainly by dysregulation of the blood supply. It was previously known as vascular dysregulation. It can manifest in many symptoms, such as cold hands ...
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Fleischer's syndrome Fleischer's syndrome is an extremely rare congenital anomaly characterized by displacement of the nipples, occasional polymastia, and hypoplasia of both kidneys The kidneys are two reddish-brown bean-shaped organs found in vertebrates. The ...
# Floating–Harbor syndrome # Floppy eyelid syndrome #
Floppy trunk syndrome Floppy trunk syndrome (abbreviated FTS, also known as flaccid trunk paralysis) is a condition that causes trunk paralysis in African bush elephants. Initially observed in 1989, the syndrome primarily affected bull elephants in several select region ...
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Florid cutaneous papillomatosis Florid cutaneous papillomatosis (FCP), is an obligate paraneoplastic syndrome. FCP begins as the sudden onset of numerous cutaneous papillomas that are clinically indistinguishable from viral warts. The papillomas range from 1 to 3 mm in d ...
# Flynn–Aird syndrome # Foal immunodeficiency syndrome # Foerster's syndrome # Foix–Alajouanine syndrome #
Foix–Chavany–Marie syndrome Foix–Chavany–Marie Syndrome (FCMS), also known as bilateral opercular syndrome, is a neuropathological disorder characterized by paralysis of the facial, tongue, pharynx, and masticatory muscles of the mouth that aid in chewing. The disorder ...
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Folie à deux Folie à deux ('folly of two', or 'madness haredby two'), also known as shared psychosis or shared delusional disorder (SDD), is a collection of rare psychiatric syndromes in which symptoms of a delusional belief, and sometimes hallucination ...
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Follicle-stimulating hormone insensitivity Follicle-stimulating hormone (FSH) insensitivity, or ovarian insensitivity to FSH in females, also referable to as ovarian follicle hypoplasia or granulosa cell hypoplasia in females, is a rare autosomal recessive genetic and endocrine syndrome a ...
# foramen magnum compression syndrome # Forbes-Albright syndrome #
Foreign accent syndrome Foreign accent syndrome is a medical condition in which patients develop speech patterns that are perceived as a foreign accent that is different from their native accent, without having acquired it in the perceived accent's place of origin. Fo ...
# Foster–Kennedy syndrome # Fountain syndrome # Foville's syndrome #
Fragile X syndrome Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features ma ...
# Fragile X-associated tremor/ataxia syndrome # Franceschetti–Klein syndrome # Frank–ter Haar syndrome # Fraser syndrome #
Frasier syndrome Frasier syndrome is a urogenital anomaly associated with the ''WT1'' (Wilms tumor 1 gene) gene. It was first characterized in 1964. Presentation Both males and females can have Frasier syndrome but their presentations can be different. Affected ...
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Freeman–Sheldon syndrome Freeman–Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes ( arthrogryposes) and is the most severe form of distal arthrogryposis (DA). It was originally described by Ernest Arthur Freeman and Joseph ...
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Frey's syndrome Frey's syndrome (also known as Baillarger's syndrome, Dupuy's syndrome, auriculotemporal syndrome, or Frey-Baillarger syndrome) is a rare neurological disorder resulting from damage to or near the parotid glands responsible for making saliva, and ...
# Froin's syndrome # Fryns syndrome #
Functional somatic syndrome The term functional somatic syndrome (FSS) refers to a group of chronic diagnoses with no identifiable organic cause. This term was coined by Hemanth Samkumar. It encompasses disorders such as chronic fatigue syndrome, fibromyalgia, chronic widespr ...


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# Gaisböck syndrome # Galloway Mowat syndrome #
GAPO syndrome GAPO syndrome is a rare, autosomal recessive disorder that causes severe growth retardation, and has been observed fewer than 30 times before 2011. GAPO is an acronym that encompasses the predominant traits of the disorder: growth retardation, alo ...
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Gardner's syndrome Gardner's syndrome (also known as Gardner syndrome, familial polyposis of the colon, or familial colorectal polyposis) is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characteriz ...
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Gastric outlet obstruction Gastric outlet obstruction (GOO) is a medical condition where there is an obstruction at the level of the pylorus, which is the outlet of the stomach. Individuals with gastric outlet obstruction will often have recurrent vomiting of food that ha ...
# Gastrocutaneous syndrome # Gastrointestinal syndrome #
Genitopatellar syndrome Genitopatellar syndrome is a rare disorder consisting of congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Additional symptoms include microcephaly, severe psychomotor disability. I ...
# Gerstmann syndrome #
Gerstmann–Sträussler–Scheinker syndrome Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age. It is exclusively heritable, and is found in only a few families all over ...
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Geschwind syndrome Geschwind syndrome, also known as Gastaut-Geschwind, is a group of behavioral phenomena evident in some people with temporal lobe epilepsy. It is named for one of the first individuals to categorize the symptoms, Norman Geschwind, who published pr ...
# Gianotti–Crosti syndrome # Giant platelet disorder # Guillain-Barre syndrome # Gillespie syndrome # Gitelman syndrome # Gleich's syndrome # GMS syndrome # Goldberg–Shprintzen syndrome #
Goldenhar syndrome Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip and mandible on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular skin ta ...
# Gomez and López-Hernández syndrome # Gonadotropin insensitivity #
Gonadotropin-releasing hormone insensitivity Gonadotropin-releasing hormone (GnRH) insensitivity also known as Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a rare autosomal recessive genetic and endocrine syndrome which is characterized by inactivating mutations of th ...
# Goodpasture syndrome #
Gordon syndrome Gordon syndrome, or distal arthrogryposis type 3, is a rare genetic disorder characterized by cleft palate and congenital contractures of the hands and feet. Signs and symptoms Other signs and symptoms include short stature, bifid uvula, hip disl ...
# Gougerot–Blum syndrome #
Gourmand syndrome Gourmand syndrome is a very rare and benign eating disorder that usually occurs six to twelve months after an injury to the frontal lobe. Those with the disorder usually have a right hemisphere frontal or temporal brain lesion typically affectin ...
# Gouverneurs syndrome #
GRACILE syndrome GRACILE syndrome is a very rare lethal autosomal recessive genetic disorder, one of the Finnish heritage diseases. GRACILE syndrome has also been found in the UK and Sweden, but not nearly as much as in Finland. It is caused by a mutation in the '' ...
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Graham-Little syndrome Graham-Little syndrome is a cutaneous condition characterized by lichen planus-like skin lesions.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . It is named after Ernest Graham-Little. See al ...
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Gray baby syndrome Gray baby syndrome (also termed Gray or Grey syndrome) is a rare but serious, even fatal, side effect that occurs in newborn infants (especially premature babies) following the accumulation of antibiotic chloramphenicol. Chloramphenicol is a broad ...
# Gray platelet syndrome # Grayson-Wilbrandt corneal dystrophy # Greater trochanteric pain syndrome #
Green nail syndrome Green nail syndrome is an infection that can develop in individuals whose hands are frequently submerged in water resulting in discolouration of the nails from shades of green to black. It may also occur as transverse green stripes that are ascri ...
# Greig cephalopolysyndactyly syndrome # Grinspan's syndrome #
Griscelli syndrome type 2 Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neu ...
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Griscelli syndrome type 3 Griscelli syndrome type 3 is a disorder of melanosome transport presenting initially with hypopigmentation.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . See ...
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Griscelli syndrome Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of di ...
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Grisel's syndrome Grisel's syndrome is a non-traumatic subluxation of the atlanto-axial joint caused by inflammation of the adjacent tissues. This is a rare disease that usually affects children. Progressive throat and neck pain and neck stiffness can be followed ...
# Growing teratoma syndrome #Grunya's Syndrome #
Gilbert's syndrome Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority. Many people never have symptoms. Occasionally jaundice (a slight yellowish color of the skin or whites of the eyes) ...
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Gulf War syndrome Gulf War syndrome or Gulf War illness is a chronic and multi-symptomatic disorder affecting military veterans of both sides of the 1990–1991 Persian Gulf War. A wide range of acute and chronic symptoms have been linked to it, including fatigue ...
# Gullo syndrome


H

# Haber syndrome # Hagemoser–Weinstein–Bresnick syndrome # Haglund's syndrome # Haim–Munk syndrome # Hajdu–Cheney syndrome # Halal syndrome # Hallermann–Streiff syndrome #
Hamman's syndrome Hamman's syndrome, also known as Macklin's syndrome, is a syndrome of spontaneous subcutaneous emphysema (air in the subcutaneous tissues of the skin) and pneumomediastinum (air in the mediastinum, the center of the chest cavity), sometimes associa ...
# Hamman-Rich syndrome # Hand-foot-genital syndrome # Handigodu syndrome # Hanhart syndrome # Hantavirus pulmonary syndrome # Hapnes Boman Skeie syndrome #
Harlequin syndrome Harlequin syndrome is a condition characterized by asymmetric sweating and flushing on the upper thoracic region of the chest, neck and face. Harlequin syndrome is considered an injury to the autonomic nervous system (ANS). The ANS controls so ...
# Harris platelet syndrome #
Harrison syndrome Gout ( ) is a form of inflammatory arthritis characterized by recurrent attacks of a red, tender, hot and swollen joint, caused by deposition of monosodium urate monohydrate crystals. Pain typically comes on rapidly, reaching maximal intensit ...
# Havana syndrome #
Hay–Wells syndrome Hay–Wells syndrome (also known as AEC syndrome; see ''Naming'') is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails. Genetics Ha ...
# Hearing loss with craniofacial syndromes #
HEC syndrome HEC syndrome is a syndrome characterized by hydrocephalus, endocardial fibroelastosis and cataract A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or b ...
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Heel pad syndrome Heel pad syndrome is a pain that occurs in the center of the heel. It is typically due to atrophy of the fat pad which makes up the heel. Risk factors include obesity. Other conditions with similar symptoms include plantar fasciitis. Treatment inc ...
# Heel spur syndrome # Heerfordt syndrome #
HELLP syndrome HELLP syndrome is a complication of pregnancy; the acronym stands for hemolysis, elevated liver enzymes, and low platelet count. It usually begins during the last three months of pregnancy or shortly after childbirth. Symptoms may include feelin ...
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Hemihyperplasia–multiple lipomatosis syndrome Hemihyperplasia–multiple lipomatosis syndrome is a cutaneous condition characterized by multiple lipomas in association with asymmetric (but non-progressive and non-distorting) overgrowth, cutaneous capillary malformations, and thickened plantar ...
# Hemimegalencephaly #
Hemispatial neglect Hemispatial neglect is a neuropsychological condition in which, after damage to one hemisphere of the brain (e.g. after a stroke), a deficit in attention and awareness towards the side of space opposite brain damage (contralesional space) is observ ...
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Hemoglobin Lepore syndrome Hemoglobin Lepore syndrome is typically an asymptomatic hemoglobinopathy, which is caused by an autosomal recessive genetic mutation. The Hb Lepore variant, consisting of two normal alpha globin chains (HBA) and two delta-beta globin fusion chai ...
# Hemolytic-uremic syndrome #
Hennekam syndrome Hennekam syndrome also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome, is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate lev ...
# Hepatopulmonary syndrome #
Hepatorenal syndrome Hepatorenal syndrome (often abbreviated HRS) is a life-threatening medical condition that consists of rapid deterioration in kidney function in individuals with cirrhosis or fulminant liver failure. HRS is usually fatal unless a liver transpl ...
# Hereditary breast–ovarian cancer syndrome # Hereditary hyperbilirubinemia # Hereditary leiomyomatosis and renal cell cancer syndrome #
Hereditary neuralgic amyotrophy Hereditary neuralgic amyotrophy (HNA) is a neuralgic disorder that is characterized by nerve damage and muscle atrophy, preceded by severe pain. In about half of the cases it is associated with a mutation of the ''SEPT9'' gene (17q25). While not mu ...
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Hereditary nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that is associated with a high risk of colon cancer as well as other cancers including endometrial cancer (second most common), ovary, ...
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Hermansky–Pudlak syndrome Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platele ...
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Hero syndrome Hero syndrome is a term used by media to describe the behavior of a person seeking heroism or recognition, usually by creating a harmful situation to objects or persons which they then can resolve. This can include unlawful acts, such as arson. T ...
# Heyde's syndrome #
High-rise syndrome High-rise syndrome is a veterinary term for injuries sustained by a cat falling from a building, typically higher than two stories (). Injuries sustained by cats falling Common injuries sustained in cats after a fall include: * Broken bones, m ...
# (Lazy bladder syndrome) #
HIV/AIDS Human immunodeficiency virus infection and acquired immunodeficiency syndrome (HIV/AIDS) is a spectrum of conditions caused by infection with the human immunodeficiency virus (HIV), a retrovirus. Following initial infection an individual ...
# Holiday heart syndrome # Holt–Oram syndrome # Hopkins syndrome # Horn-Kolb syndrome #
Horner's syndrome Horner's syndrome, also known as oculosympathetic paresis, is a combination of symptoms that arises when a group of nerves known as the sympathetic trunk is damaged. The signs and symptoms occur on the same side (ipsilateral) as it is a lesion ...
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Howel–Evans syndrome Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the hands and the soles of the feet (hyperkeratosis). This familial disease is associated with a high lifetime risk of esophageal cancer. For thi ...
# Hoyeraal-Hreidarsson syndrome # Ho–Kaufman–Mcalister syndrome # Hughes–Stovin syndrome # Hunan hand syndrome #
Hunter syndrome Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large sugar molecules called glycosaminoglycans (or GAGs or mucopolysaccharides) build up in body tissues. It is a form of lysosomal storage disease. ...
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Huntington's disease-like syndrome Huntington's disease-like syndromes (HD-like syndromes, or HDL syndromes) are a family of inherited neurodegenerative diseases that closely resemble Huntington's disease (HD) in that they typically produce a combination of chorea, cognitive declin ...
# HUPRA syndrome #
Hurler syndrome Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inabil ...
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Hurler–Scheie syndrome Hurler–Scheie syndrome is a genetic disorder caused by the buildup of glycosaminoglycans (GAGs) in various organ tissues. It is a cutaneous condition, also characterized by mild mental retardation and corneal clouding. Respiratory problems, sleep ...
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Hutchinson–Gilford progeria syndrome Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome. A single gene mutation is responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the Nucleus of the cell ...
# Hydrolethalus syndrome # Hyper IgM syndrome #
Hyper-IgD syndrome Mevalonate kinase deficiency (MKD) is an autosome, autosomal Dominance (genetics), recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. It is a Rare genetic disease, very rare genetic disease. It is charact ...
# Hyper-IgM syndrome type 1 # Hyper-IgM syndrome type 2 # Hyper-IgM syndrome type 3 # Hyper-IgM syndrome type 4 # Hyper-IgM syndrome type 5 # Hyperimmunoglobulin D syndrome # Hyperimmunoglobulin E syndrome # Hyperleukocytosis syndrome # Hypermobility syndrome # Hyperosmolar syndrome # Hyperprolactinaemia # Hyperprolactinemic SAHA syndrome # Hypertension and brachydactyly syndrome # Hypertrichosis cubiti # Hyperventilation syndrome # Hyperviscosity syndrome # Hypohidrotic ectodermal dysplasia #
Hypoplastic left heart syndrome Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the heart is severely underdeveloped and incapable of supporting the systemic circulation. It is estimated to account for 2-3% of all congenital he ...
# Hypoplastic right heart syndrome #
Hypotonia Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases ...
# Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome # Hypotrichosis–lymphedema–telangiectasia syndrome # Hystrix-like ichthyosis–deafness syndrome


I

# Ichthyosis follicularis with alopecia and photophobia syndrome # Ichthyosis prematurity syndrome # Idiopathic pneumonia syndrome # Idiopathic postprandial syndrome # Idiopathic pure sudomotor failure #
Iliotibial band syndrome Iliotibial band syndrome (ITBS) is the second most common knee injury, and is caused by inflammation located on the lateral aspect of the knee due to friction between the iliotibial band and the lateral epicondyle of the femur. Pain is felt mos ...
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Imerslund–Gräsbeck syndrome Imerslund–Gräsbeck syndrome is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "''Cubam''" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and ...
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Immersion foot syndromes Immersion foot syndromes are a class of foot injury caused by water absorption in the outer layer of skin. There are different subclass names for this condition based on the temperature of the water to which the foot is exposed. These include tren ...
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Immune reconstitution inflammatory syndrome Immune reconstitution inflammatory syndrome (IRIS) is a condition seen in some cases of AIDS or immunosuppression, in which the immune system begins to recover, but then responds to a previously acquired opportunistic infection with an overwhelmin ...
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Immunodeficiency–centromeric instability–facial anomalies syndrome ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder. Presentation It is characterized by variable reductions in serum immunoglobulin levels which cause most ...
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Impingement syndrome Shoulder impingement syndrome is a syndrome involving tendonitis (inflammation of tendons) of the rotator cuff muscles as they pass through the subacromial space, the passage beneath the acromion. It is particularly associated with tendonitis of t ...
# Imposter syndrome # Incontinentia pigmenti #
Infant respiratory distress syndrome Infantile respiratory distress syndrome (IRDS), also called respiratory distress syndrome of newborn, or increasingly surfactant deficiency disorder (SDD), and previously called hyaline membrane disease (HMD), is a syndrome in premature infants ...
# Inferior vena cava syndrome #Infertility in polycystic ovary syndrome #Influenza-like illness #Institutional syndrome #Intersection syndrome #Interstitial cystitis #Intracranial hypertension syndrome #Intraoperative floppy iris syndrome #Intravenous marijuana syndrome #IPEX syndrome #Iridocorneal endothelial syndrome #Irlen syndrome #Irregular sleep–wake rhythm #irritable bladder syndrome #Irritable bowel syndrome #Irritable male syndrome #Irukandji syndrome #Irvine–Gass syndrome #Isolated brainstem syndrome


J

#Jackson–Weiss syndrome #Jacobsen syndrome #Jaffe–Campanacci syndrome #Jalili syndrome #Jansen's metaphyseal chondrodysplasia #Janz syndrome #Jeavons syndrome #Jervell and Lange-Nielsen syndrome #Johanson–Blizzard syndrome #Johnson–McMillin syndrome #Johnson–Munson syndrome #Joubert syndrome #Juberg-Hellman syndrome #Jugular foramen syndrome #Juvenile polyposis syndrome #Jerusalem syndrome


K

#Kabuki syndrome #Kallmann syndrome #Kapur–Toriello syndrome #Karak syndrome #Karsch-Neugebauer syndrome #Kartagener's syndrome #Kasabach–Merritt syndrome #Katz syndrome #Kaufman oculocerebrofacial syndrome #Kearns–Sayre syndrome #Keppen–Lubinsky syndrome #Keratitis–ichthyosis–deafness syndrome #Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome #Keutel syndrome #Kimmelstiel-Wilson syndrome #Kindler syndrome #King–Kopetzky syndrome #Kleine–Levin syndrome #Klinefelter syndrome #Klippel–Feil syndrome #Klippel–Trénaunay syndrome #Klüver–Bucy syndrome #Knobloch syndrome #Kocher–Debre–Semelaigne syndrome #Kohlschütter-Tönz syndrome #Korsakoff's syndrome #Kostmann syndrome #Kounis syndrome #Kowarski syndrome #Kufor–Rakeb syndrome #König's syndrome


L

#Lachiewicz–Sibley syndrome #Lacunar Stroke Syndrome #Lambert–Eaton myasthenic syndrome #Landau–Kleffner syndrome #Langer–Giedion syndrome #Laron syndrome #Larsen syndrome #Laryngoonychocutaneous syndrome #Lateral medullary syndrome #Lateral meningocele syndrome #Lateral pontine syndrome #Laugier–Hunziker syndrome #Laurence–Moon syndrome #Lavender foal syndrome #Lavender Town #Lawrence–Seip syndrome #Lazarus syndrome #Leaky gut syndrome #Legg–Calvé–Perthes disease #Legius syndrome #Leiner's disease #Lelis syndrome #Lemierre's syndrome #Lennox–Gastaut syndrome #Lenz microphthalmia syndrome #Lenz–Majewski syndrome #Leriche's syndrome #Leschke syndrome #Lesch–Nyhan syndrome #Lethal congenital contracture syndrome #Lethal white syndrome #Leukotriene receptor antagonist-associated Churg–Strauss syndrome #Levator ani syndrome #Leydig cell hypoplasia #Liddle's syndrome #Liebenberg syndrome #LIG4 syndrome #Lima syndrome #Limb girdle syndrome #Limber tail syndrome #Limb–mammary syndrome #Linburg–Comstock syndrome #Li–Fraumeni syndrome #Locked-in syndrome #Locomotive syndrome #Loeys–Dietz syndrome #Loin pain hematuria syndrome #Long face syndrome #Long QT syndrome #Loose anagen syndrome #Lown–Ganong–Levine syndrome #Lowry–MacLean syndrome #Lucey–Driscoll syndrome #Lujan–Fryns syndrome #lumbar disc syndrome #Lupus-like syndrome #Lutembacher's syndrome #Lymphangitis carcinomatosa #Lymphedema–distichiasis syndrome #Lynch syndrome #Lyngstadaas syndrome #Löffler's syndrome #Löfgren syndrome


M

#M74 syndrome #Macrocephaly-capillary malformation #Macrophage activation syndrome #Maffucci syndrome #Majeed syndrome #Majewski's polydactyly syndrome #Mal de debarquement #Malformative syndrome #Mallory–Weiss syndrome #Malnutrition–inflammation complex #Malouf syndrome #Malpuech facial clefting syndrome #Management of chronic headaches #Manning criteria #Marchiafava–Bignami disease #Marden–Walker syndrome #Mare reproductive loss syndrome #Marfan syndrome #Marfanoid–progeroid–lipodystrophy syndrome #Marie Antoinette syndrome #Marinesco–Sjögren syndrome #Maroteaux–Lamy syndrome #Marshall syndrome #Marshall–Smith syndrome #Marshall–White syndrome #MASA syndrome #Mast cell activation syndrome #Mauriac syndrome #Mayer–Rokitansky–Küster–Hauser syndrome #May–Thurner syndrome #May–White syndrome #McArdle syndrome #McCune–Albright syndrome #McCusick syndrome #McGillivray syndrome #McKittrick–Wheelock syndrome #McKusick–Kaufman syndrome #McLeod syndrome #MDP syndrome #Mean world syndrome #Meckel syndrome #Meconium aspiration syndrome #Medial medullary syndrome #Medial pontine syndrome #Median arcuate ligament syndrome #Medical students' disease #MEDNIK syndrome #Megavitamin-B6 syndrome, Megavitamin-B6 syndrome #Meige's syndrome #Meigs' syndrome #MELAS syndrome #Melkersson–Rosenthal syndrome #Melnick–Needles syndrome #Memory distrust syndrome #Mendelson's syndrome #Menkes disease #MERRF syndrome #Metabolic syndrome #Michelin tire baby syndrome #Michels Caskey syndrome #Michels syndrome #Mickleson syndrome #Micro syndrome #Microdeletion syndrome #Microphthalmia–dermal aplasia–sclerocornea syndrome #Middle cerebral artery syndrome #Middle child syndrome #Middle East respiratory syndrome #Mikulicz syndrome #Mild androgen insensitivity syndrome #Milk-alkali syndrome #Millard–Gubler syndrome #Miller Fisher syndrome #Miller syndrome #Miller–Dieker syndrome #Milroy's disease #Milwaukee shoulder syndrome #Mirhosseini–Holmes–Walton syndrome #Mirizzi's syndrome #Mirror syndrome #Mismatch repair cancer syndrome #Mitochondrial DNA depletion syndrome #Mitochondrial neurogastrointestinal encephalopathy syndrome #Mitral valve prolapse #Mittelschmerz #Mohr–Tranebjærg syndrome #MOMO syndrome #Monofixation syndrome #MonoMAC #mononucleosis like syndrome #Morgagni Stewart Morel syndrome #MORM syndrome #Morquio syndrome #Morvan's syndrome #Mouth and genital ulcers with inflamed cartilage syndrome #Mowat–Wilson syndrome #Moyamoya disease #Moynahan syndrome #Muckle–Wells syndrome #Muenke syndrome #Muir–Torre syndrome #Mukamel syndrome #Multiple endocrine neoplasia type 1 #Multiple endocrine neoplasia type 2 #Multiple evanescent white dot syndrome #Multiple hamartoma syndrome #Multiple organ dysfunction syndrome #Multiple pterygium syndrome #Munchausen syndrome #Mungan syndrome #Musical ear syndrome #Mycosis fungoides #Myelodysplastic syndrome #Myoclonic astatic epilepsy #Myofascial pain syndrome #Myomatous erythrocytosis syndrome #Möbius syndrome #Müllerian agenesis


N

#Nablus mask-like facial syndrome #Naegeli–Franceschetti–Jadassohn syndrome #Nager acrofacial dysostosis #Nail–patella syndrome #Nakajo syndrome #Nance–Horan syndrome #Napoleonist Syndrome #Nasodigitoacoustic syndrome #Naxos syndrome #Nelson's syndrome #NEMO deficiency syndrome #Neonatal ichthyosis–sclerosing cholangitis syndrome #Nephritic syndrome #Nephrotic syndrome #Nerve compression syndrome #Netherton syndrome #Neu–Laxova syndrome #Neuro-cardio-facial-cutaneous syndromes #Neurofibromatosis type I #Neuroleptic malignant syndrome #Neuroleptic-Induced Deficit Syndrome #Neutrophil immunodeficiency syndrome #Nevo syndrome #Nevoid basal-cell carcinoma syndrome #Nezelof syndrome #Nicolaides–Baraitser syndrome #Nicolau–Balus syndrome #Night eating syndrome #Nijmegen breakage syndrome #Njølstad syndrome #Nodding disease #Non-24-hour sleep–wake disorder #Noonan syndrome with multiple lentigines #Noonan syndrome #Norman–Roberts syndrome #Northern epilepsy syndrome #Nutcracker syndrome


O

#Occipital horn syndrome #Ocular ischemic syndrome #Oculo-respiratory syndrome #Oculoauricular syndrome #Oculocerebrocutaneous syndrome #Oculocerebrorenal syndrome #Oculofaciocardiodental syndrome #Oculomucocutaneous syndrome #Odontoma dysphagia syndrome #Odonto–tricho–ungual–digital–palmar syndrome #Ogden Syndrome #Ogilvie syndrome #Ohtahara syndrome #Olfactory reference syndrome #Oliver–McFarlane syndrome #Omenn syndrome #One and a half syndrome #Oneiroid syndrome #Opitz G/BBB Syndrome #Opsoclonus myoclonus syndrome #Oral allergy syndrome #Oral mite anaphylaxis #Oral-facial-digital syndrome #Orbital apex syndrome #Organic brain syndrome #Organic dust toxic syndrome #Orofaciodigital syndrome 1 #Ortner's syndrome #Os trigonum syndrome #OSLAM syndrome #Osler–Weber–Rendu disease #Otodental syndrome #Otofacial syndrome #Ovarian hyperstimulation syndrome #Ovarian vein syndrome #Overgrowth syndrome #Overlap syndrome


P

#Pacak–Zhuang syndrome #Pacemaker syndrome #Painful bruising syndrome #Pallister–Hall syndrome #Pallister–Killian syndrome #Panayiotopoulos syndrome #Pancoast tumor #Pantothenate kinase-associated neurodegeneration #PAPA syndrome #Papillon–Lefèvre syndrome #Papillorenal syndrome #Papular purpuric gloves and socks syndrome #Paraneoplastic acrokeratosis #Paraneoplastic cerebellar degeneration #Paraneoplastic syndrome #Parental alienation syndrome #Parinaud's oculoglandular syndrome #Parinaud's syndrome #Paris-Trousseau syndrome #Parkes Weber syndrome #Parkinson plus syndrome #Paroxysmal hand hematoma #Paroxysmal tachycardia #Parry–Romberg syndrome #Parsonage–Turner syndrome #Partial androgen insensitivity syndrome #Pashayan syndrome #Patau syndrome #Patellar subluxation syndrome #Patellofemoral pain syndrome #Patterson syndrome #Pearson syndrome #PANDAS #Peeling skin syndrome #PEHO syndrome #Pellegrini–Stieda syndrome #Pelvic congestion syndrome #Pelvic pain #Pemphigus erythematosus #Pendred syndrome #Penile Artery Shunt Syndrome #Pentalogy of Cantrell #Periodic fever syndrome #Periodic fever, aphthous stomatitis, pharyngitis and adenitis #Perisylvian syndrome #Perlman syndrome #Persistent adrenarche syndrome #Persistent genital arousal disorder #Persistent Müllerian duct syndrome #Pervasive refusal syndrome #Peters-plus syndrome #Peutz–Jeghers syndrome #Pfeiffer syndrome #Phantom eye syndrome #Phantom limb #Phantom vibration syndrome #Pickwickian syndrome #Pigment dispersion syndrome #Pigmented hairy epidermal nevus syndrome #Pilotto syndrome #Piriformis syndrome #Pitt–Hopkins syndrome #Plica syndrome #Plummer–Vinson syndrome #POEMS syndrome #Poland syndrome #Polar T3 syndrome #Polio-like syndrome #Polycystic ovary syndrome #Popliteal artery entrapment syndrome #Popliteal pterygium syndrome #Porcine stress syndrome #Pork–cat syndrome #Post micturition convulsion syndrome #Post nasal drip syndrome #Post traumatic stress syndrome #Post-acute-withdrawal syndrome #Post-concussion syndrome #Post-Ebola virus syndrome #post-embolization syndrome #Post-intensive care syndrome #Post-maturity syndrome #Post-polio syndrome #Post-thrombotic syndrome #Post-vasectomy pain syndrome #Postcardiotomy syndrome #Postcholecystectomy syndrome #Posterior cerebral artery syndrome #Posterior cord syndrome #Posterior rami syndrome #Posterior reversible encephalopathy syndrome #Gastrectomy#Post-operative effects, Postgastrectomy syndromes #Postorgasmic illness syndrome #Postperfusion syndrome #Postpericardiotomy syndrome #Postural orthostatic tachycardia syndrome #Potocki–Lupski syndrome #Potocki–Shaffer syndrome #Potter sequence #Prader–Willi syndrome #Pre-excitation syndrome #Precordial catch syndrome #Premenstrual syndrome #Presumed ocular histoplasmosis syndrome #Pretzel syndrome #Primary pigmented nodular adrenocortical disease #Primrose syndrome #Progeroid syndromes #Progressive supranuclear palsy #Pronator teres syndrome #Propofol infusion syndrome #Proteus syndrome #Proteus-like syndrome #Prune belly syndrome #Pseudo-Cushing's syndrome #Pseudodementia #Pseudoexfoliation syndrome #Psychoorganic syndrome #Puer aeternus #Pulmonary leukostasis syndrome #Pulmonary-renal syndrome #Purple glove syndrome #Purple urine bag syndrome


Q

#Qazi–Markouizos syndrome #Quadrilateral space syndrome #Queen bee syndrome


R

#Rabbit syndrome #Rabson–Mendenhall syndrome #Radial tunnel syndrome #Rage syndrome #Raghib syndrome #Raine syndrome #Ramos-Arroyo syndrome #Ramsay Hunt syndrome type 1 #Ramsay Hunt syndrome type 2 #Ramsay Hunt syndrome #RAPADILINO syndrome #Rape trauma syndrome #Rapp–Hodgkin syndrome #Rapunzel syndrome #Rasmussen syndrome #RASopathy #Raymond Céstan syndrome #Raynaud syndrome #Red ear syndrome #Red man syndrome (Drug eruption) #Refeeding syndrome #Reactive arthritis #Renal dysplasia-limb defects syndrome #Renfield syndrome #Renpenning's syndrome #Restless legs syndrome #Restrictive dermopathy #Retinoic acid syndrome #Retirement syndrome #Rett syndrome #Reversible cerebral vasoconstriction syndrome #Revesz syndrome #Reye syndrome #Reynolds syndrome #Reynolds' pentad #Rh deficiency syndrome #Riddoch syndrome #Right middle lobe syndrome #Riley-Day Syndrome #Riley–Day syndrome #Ring chromosome 14 syndrome #Ring chromosome 20 syndrome #Roberts syndrome #Robinow syndrome #Rochon-Duvigneaud's syndrome #Roemheld syndrome #ROHHAD #Romano–Ward syndrome #Rombo syndrome #Rosenthal syndrome #Rosenthal–Kloepfer syndrome #Ross' syndrome #Rosselli–Gulienetti syndrome #Rothmund–Thomson syndrome #Rotor syndrome #Roussy–Lévy syndrome #Rubinstein–Taybi syndrome #Rud syndrome #Rudiger syndrome #Rumination syndrome #Runting-stunting syndrome in broilers #RUQ syndrome #Ruzicka Goerz Anton syndrome


S

#Saal Bulas syndrome #Saal Greenstein syndrome #Sabinas brittle hair syndrome #Sack–Barabas syndrome #SACRAL syndrome #Saethre–Chotzen syndrome #SAHA syndrome #Sakati–Nyhan–Tisdale syndrome #Salt water aspiration syndrome #Sandifer syndrome #Sanfilippo syndrome #Sanjad-Sakati syndrome #SAPHO syndrome #Satoyoshi syndrome #Savant syndrome #Say syndrome #Say–Meyer syndrome #Scalp–ear–nipple syndrome #SCARF syndrome #Scheie syndrome #Schimmelpenning syndrome #Schinzel–Giedion syndrome #Schmitt Gillenwater Kelly syndrome #Schnitzler syndrome #Schwartz–Jampel syndrome #Schöpf–Schulz–Passarge syndrome #Scimitar syndrome #Scott syndrome #Seaver Cassidy syndrome #Seckel syndrome #Second-impact syndrome #Secretan's syndrome #Seed dispersal syndrome #Senior–Løken syndrome #Sensenbrenner syndrome #Septo-optic dysplasia #Serkal syndrome #Serotonin syndrome #Serpentine fibula-polycystic kidney syndrome #Sertoli cell-only syndrome #Serum sickness–like reaction #Setleis syndrome #Severe acute respiratory syndrome #Shaken baby syndrome #Shapiro syndrome #Sheehan's syndrome #Shell nail syndrome #Shone's syndrome #Short anagen syndrome #Short bowel syndrome #short limb syndrome #Short man syndrome #Short QT syndrome #Short rib – polydactyly syndrome #SHORT syndrome #Shoulder hand syndrome (frozen shoulder) #Shwachman–Diamond syndrome #Shy-Drager syndrome #Shy-Drager syndrome #Sick building syndrome #Sick sinus syndrome #Silver–Russell syndrome #Simpson–Golabi–Behmel syndrome #Singleton Merten syndrome #Situs ambiguus #Sjögren's syndrome #Sjögren–Larsson syndrome #Skeeter syndrome #Skin fragility syndrome #Sliding uncus syndrome #Slit ventricle syndrome #Sly syndrome #Small intestinal bacterial overgrowth #Small Penis Syndrome #Smith Martin Dodd syndrome #Smith–Fineman–Myers syndrome #Smith–Lemli–Opitz syndrome #Smith–Magenis syndrome #Snapping hip syndrome #Snapping scapula syndrome #Sneddon's syndrome #Solipsism syndrome #somatostatinoma syndrome #Sopite syndrome #Sotos syndrome #Space adaptation syndrome #Spastic ataxia-corneal dystrophy syndrome #Spider lamb syndrome #Splenic flexure syndrome #Split hand syndrome #Spondylo-ocular syndrome #SPRED1 #Staphylococcal scalded skin syndrome #STAR syndrome #Stauffer syndrome #Stendhal syndrome #Steroid dementia syndrome #Stevens–Johnson syndrome #Stewart–Treves syndrome #Stickler syndrome #Sticky platelet syndrome #Sticky skin syndrome #Stiff person syndrome #Stiff skin syndrome #Stimmler syndrome #Stockholm syndrome #Straight back syndrome #Stratton Parker syndrome #Streff syndrome #Strømme syndrome #Stuck song syndrome #Student syndrome #Sturge–Weber syndrome #Subclavian steal syndrome #Sudden death syndrome #Sudden infant death syndrome #Sudden wealth syndrome #Sugarman syndrome #Sulfonamide hypersensitivity syndrome #Summer penile syndrome #Sundowning #Superior mesenteric artery syndrome #Superior orbital fissure syndrome #Superior vena cava syndrome #Supernumerary nipples–uropathies–Becker's nevus syndrome #Supernumerary phantom limb #Survivor syndrome #Susac's syndrome #Sweet's syndrome #Swyer–James syndrome #Syndrome of inappropriate antidiuretic hormone secretion #Syndrome of subjective doubles #Syndrome Without A Name #HHH syndrome #Systemic inflammatory response syndrome #Sézary disease


T

#Talk and die syndrome #TAN syndrome #TAR syndrome #Tardive dyskinesia #Tardive psychosis #Tardive syndrome #Tarsal tunnel syndrome #Taura syndrome #Taussig–Bing syndrome #Tea and toast syndrome #TEMPI syndrome #Temple–Baraitser syndrome #Tension myositis syndrome #Terson syndrome #Testicular dysgenesis syndrome #Tetra-amelia syndrome #Tetralogy of Fallot #Teunissen–Cremers syndrome #Thevenard syndrome #Thoracic insufficiency syndrome #Thoracic outlet syndrome #Thorn's Syndrome #Thrombotic thrombocytopenic purpura #Thymoma with immunodeficiency #Tietz syndrome #Tietze syndrome #tight lens syndrome #Timothy syndrome #TNF receptor associated periodic syndrome #Tolosa–Hunt syndrome #Tonic tensor tympani syndrome #Tooth and nail syndrome #TORCH syndrome #Tourette syndrome #Townes–Brocks syndrome #Toxic anterior segment syndrome #Toxic oil syndrome #Toxic shock syndrome #Tracheobronchomegaly #Transurethral resection of the prostate syndrome #Transverse myelitis #Treacher Collins syndrome #Trench foot #Tricho-hepato-enteric syndrome #Trichothiodystrophy #Tricho–dento–osseous syndrome #Tricho–rhino–phalangeal syndrome #Trigeminal trophic syndrome #Triple X syndrome #Triploid syndrome #Trisomy 8 #Tropical splenomegaly syndrome #Trotter's syndrome #Truman Syndrome #Tsukuhara syndrome #Tumor lysis syndrome #Tumor necrosis factor receptor associated periodic syndrome #Turner syndrome #Twiddler's syndrome #Twin Anemia-Polycythemia Sequence #Twin-to-twin transfusion syndrome


U

#Untilitant Brainstem Syndrome #Uorica Abdominal Wall #Utility brainstem #Ulysses syndrome #Uncombable hair syndrome #Uner Tan syndrome #Upper airway resistance syndrome #Upper motor neuron syndrome #Upshaw–Schulman syndrome #Urban survival syndrome #Urban–Rogers–Meyer syndrome #Urethral syndrome #Urofacial syndrome #Urticarial vasculitis #Usher syndrome #UV-sensitive syndrome


V

#VACTERL association #Valentino's syndrome #Van der Woude syndrome #van Gogh syndrome #Van Wyk and Grumbach syndrome #Vanishing bile duct syndrome #Vascular access steal syndrome #Vasoplegic syndrome #Vestibulocerebellar syndrome #Vici syndrome #Villaret’s syndrome #VIP syndrome #VIPoma #Visual looming syndrome #Vitreous touch syndrome #Vogt–Koyanagi–Harada disease #Von Hippel–Lindau disease #Vulvodynia


W

#Waardenburg syndrome #WAGR syndrome #Walker–Warburg syndrome #Wallis–Zieff–Goldblatt syndrome #Waltman Walter syndrome #Warkany syndrome 1 #Warmblood Fragile Foal Syndrome #Wartenberg's Syndrome #Waterhouse–Friderichsen syndrome #Watson syndrome #Weaver syndrome #Weber's syndrome #Weill–Marchesani syndrome #Weismann-Netter–Stuhl syndrome #Weissenbacher–Zweymüller syndrome #Wellens' syndrome #Wende–Bauckus syndrome #Werner syndrome #Wernicke–Korsakoff syndrome #West syndrome #Westerhof syndrome #Wet lung syndrome in newborn #WHIM syndrome #White dog shaker syndrome #White dot syndromes #White spot syndrome #White-nose syndrome #widower syndrome #Wiedemann-Steiner syndrome #Wiedemann–Rautenstrauch syndrome #Wildervanck syndrome #Williams syndrome #Williams–Campbell syndrome #Wilson's temperature syndrome #Wilson–Mikity syndrome #Wilson–Turner syndrome #Winchester syndrome #Winter-over syndrome #Wiskott–Aldrich syndrome #Wissler's syndrome #Withdrawal syndrome #Withering abalone syndrome #Wobbly hedgehog syndrome #Wolcott–Rallison syndrome #Wolff–Parkinson–White syndrome #Wolfram syndrome #Wolf–Hirschhorn syndrome #Woodhouse–Sakati syndrome #Work-related musculoskeletal disorders #Worster-Drought syndrome #Worth syndrome #Wrinkly skin syndrome


X

#X-linked lymphoproliferative disease #Xeroderma pigmentosum #Xia-Gibbs Syndrome #XX male syndrome #XXXY syndrome #XXYY syndrome #XY gonadal dysgenesis #XYY syndrome


Y

#Yellow nail syndrome #Yemenite deaf-blind hypopigmentation syndrome #Yentl Syndrome #Yim–Ebbin syndrome #Young's syndrome #Young–Madders syndrome #Young–Simpson syndrome #Yunis–Varon syndrome #Yunnan sudden death syndrome


Z

#Zadik–Barak–Levin syndrome #Zamzam–Sheriff–Phillips syndrome #Zechi-Ceide syndrome #Zellweger syndrome #Zieve's syndrome #Zimmermann–Laband syndrome #Zollinger–Ellison syndrome #Zori–Stalker–Williams syndrome #ZTTK syndrome {{DEFAULTSORT:Syndromes Syndromes, * Medical lists