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List Of Syndromes
This is an alphabetically sorted list of medical syndromes. starting with numbers. #13q deletion syndrome # 17q21.31 microdeletion syndrome #1p36 deletion syndrome # 1q21.1 deletion syndrome #1q21.1 duplication syndrome # 22q11.2 distal deletion syndrome # 22q11.2 duplication syndrome #22q13 deletion syndrome # 2p15-16.1 microdeletion syndrome # 2q37 deletion syndrome #3-M syndrome # 3C syndrome #3q29 microdeletion syndrome # 49,XXXXY # 4D syndrome # 8p23.1 duplication syndrome # 9q34 deletion syndrome A # Aagenaes syndrome # Aarskog–Scott syndrome # Aase syndrome #Abandoned child syndrome #ABCD syndrome # Abdallat–Davis–Farrage syndrome # Abderhalden–Kaufmann–Lignac syndrome #Abdominal compartment syndrome # abdominal wall pain syndrome # Ablepharon macrostomia syndrome # Abruzzo–Erickson syndrome # Achard syndrome # Achard–Thiers syndrome #Ackerman syndrome # Acorea, microphthalmia and cataract syndrome #Acrocallosal syndrome #Acropectoral syndrome #Acro–dermato ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aarskog–Scott Syndrome
Aarskog–Scott syndrome (AAS) is a rare disease inherited disease, inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. This condition mainly affects males, although females may have mild features of the syndrome. Signs and symptoms People with Aarskog–Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease across the palm. Other abnormalities in people with Aarskog–Scott synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acorea, Microphthalmia And Cataract Syndrome
Acorea, microphthalmia and cataract syndrome is a rare genetically inherited condition.Kondo H, Tahira T, Yamamoto K, Tawara A (2013) Familial acorea, microphthalmia and cataract syndrome. Br J Ophthalmol Presentation Acorea or fibrous occlusion of the pupil, microphthalmia and cataracts are present in both eyes. Microcornea and iridocorneal dysgenesis also occur. The retina and optic disc The optic disc or optic nerve head is the point of exit for ganglion cell axons leaving the eye. Because there are no rods or cones overlying the optic disc, it corresponds to a small blind spot in each eye. The ganglion cell axons form the ... are normal. Genetics The cause of this condition is not presently known. It appears to be inherited in an autosomal dominant fashion. Diagnosis Treatment References {{Medicine Genetic disorders by system Congenital disorders of eyes Syndromes affecting the eye Rare syndromes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 glaucoma. It was described by James L. Ackerman, A. Leon Ackerman, and A. Bernard Ackerman. Signs and symptoms * Fused molar roots * Single root canal * Juvenile glaucoma * Sparse body hair * Distinct facial features: full upper lip, absence of cupid's bow, thick philtrum * Syndactyly * Increased pigmentation of finger joints * Clinodactyly Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger"). It is a fairly common iso ... of fifth finger. Diagnosis Treatment References External links * Rare genetic syndromes Syndromes affecting teeth Syndromes with craniofa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Achard–Thiers Syndrome
Achard–Thiers syndrome (also known as diabetic-bearded woman syndrome) is a rare disorder mainly occurring in postmenopausal women. It is characterized by type II diabetes mellitus and signs related to the overproduction of androgens. The disease is named for Emile Achard and Joseph Thiers. Presentation Achard–Thiers syndrome affects mostly postmenopausal women and comprises diabetes mellitus, deep voice, hirsutism, clitoral hypertrophy and adrenal cortical hyperplasia or adenoma. Patients often also have amenorrhoea, hypertension and osteoporosis. Diagnosis Based on the clinical findings, an Achard-Thiers syndrome diagnosis should be considered. A two-hour oral glucose tolerance test reveals abnormally elevated blood glucose levels in affected women because they are hyperinsulinemic. Treatment Diabetes can be controlled with food, insulin, and other medications as needed. To make hair removal easier, cosmetic procedures like electrolysis and waxing can be employed. Oral ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Achard Syndrome
Achard syndrome is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity. It is clinically similar to Marfan syndrome. Symptoms Presentation is the following: * Small thumbs * Joint laxity in hands * Joint laxity in feet * Brachycephaly Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than typical for its species. It is perceived as a desirable trait in some domesticated dog and cat breeds, ... * Short mandibular rami Diagnosis Treatment References Further reading * * * * External links Syndromes affecting joints Musculoskeletal disorders Syndromes with dysmelia Syndromes affecting the jaw {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abruzzo–Erickson Syndrome
Abruzzo–Erickson syndrome is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis, and short stature. It was first characterized by Abruzzo and Erickson in 1977 as a CHARGE like syndrome as variably expressed among a family of two brothers, their mother, and their maternal uncle. Members of this family exhibited many of the CHARGE symptoms, but notably did not have choanal atresia and the brothers experienced typical genital development. Due to the recent discovery of this disorder, its etiology is not fully known but it is understood that it arises from mutations on the TBX22 gene on the X-chromosome. The disorder is inherited in an X-linked recessive manner. There is currently no known cure but its symptoms can be treated. Signs and Symptoms Abruzzo-Erikson syndrome is characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. There are also additional s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ablepharon Macrostomia Syndrome
Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities. AMS is caused by mutations in the ''TWIST2'' gene, among others. It is closely related to Barber–Say syndrome in terms of phenotypic abnormalities. Signs and symptoms AMS is generally characterized by abnormal appearances of the skin, eyes, fingers, genitals, head and face. Infan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abdominal Wall Pain Syndrome
The abdomen (colloquially called the belly, tummy, midriff, tucky or stomach) is the part of the body between the thorax (chest) and pelvis, in humans and in other vertebrates. The abdomen is the front part of the abdominal segment of the torso. The area occupied by the abdomen is called the abdominal cavity. In arthropods it is the posterior tagma of the body; it follows the thorax or cephalothorax. In humans, the abdomen stretches from the thorax at the thoracic diaphragm to the pelvis at the pelvic brim. The pelvic brim stretches from the lumbosacral joint (the intervertebral disc between L5 and S1) to the pubic symphysis and is the edge of the pelvic inlet. The space above this inlet and under the thoracic diaphragm is termed the abdominal cavity. The boundary of the abdominal cavity is the abdominal wall in the front and the peritoneal surface at the rear. In vertebrates, the abdomen is a large body cavity enclosed by the abdominal muscles, at front and to the sides, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 there is new organ dysfunction or failure. ACS is classified into three groups: Primary, secondary and recurrent ACS. It is not a disease and as such it occurs in conjunction with many disease processes, either due to the primary illness or in association with treatment interventions. Specific cause of abdominal compartment syndrome is not known, although some causes can be sepsis and severe abdominal trauma. Increasing pressure reduces blood flow to abdominal organs and impairs pulmonary, cardiovascular, renal, and gastro-intestinal (GI) function, causing obstructive shock, multiple organ dysfunction syndrome and death. Causes * Peritoneal tissue edema secondary to diffuse peritonitis, abdominal trauma * Fluid therapy due to massive vo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abderhalden–Kaufmann–Lignac Syndrome
Abderhalden–Kaufmann–Lignac syndrome (AKL syndrome), also called nephropathic cystinosis, is an autosomal recessive renal disorder of childhood comprising cystinosis and renal rickets. Presentation Affected children are developmentally delayed with dwarfism, rickets and osteoporosis. Renal tubular disease is usually present causing aminoaciduria, glycosuria and hypokalemia. Cysteine deposition is most evident in the conjunctiva and cornea. Diagnosis Eponym It is named for Emil Abderhalden Emil Abderhalden (9 March 1877 – 5 August 1950) was a Swiss biochemist and physiologist. His main findings, though disputed already in the 1910s, were not finally rejected until the late 1990s. Whether his misleading findings were based on f ..., Eduard Kaufmann and George Lignac. See also * Cystinosin References External links Autosomal recessive disorders Syndromes affecting the kidneys {{Genetic-disorder-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Abdallat–Davis–Farrage Syndrome
Abdallat–Davis–Farrage syndrome is a form of phakomatosis, a disease of the central nervous system accompanied by skin abnormalities. It is characterized by the out of the ordinary pigment of the skin that is abnormal to one's genetics or the color perceived on a basis. The condition is named after the team of medical professionals who first wrote it up, describing the appearance of the syndrome in a family from Jordan. It was characterized in 1980 by Adnan Abdallat, a Jordanian doctor. Signs and symptoms Clinical presentation is as follows: * Albinism (hair) * Irregular decreased skin pigmentation * Excessive freckling * Insensitivity to pain * Paraparesis/ quadraparesis Genetics The syndrome is thought to be inherited as an autosomal recessive gene In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
