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Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders in the current classification, with the latest type discovered in 2018. Symptoms include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include
aortic dissection Aortic dissection (AD) occurs when an injury to the innermost layer of the aorta allows blood to flow between the layers of the aortic wall, forcing the layers apart. In most cases, this is associated with a sudden onset of severe chest or ...
, joint dislocations, scoliosis,
chronic pain Chronic pain is classified as pain that lasts longer than three to six months. In medicine, the distinction between Acute (medicine), acute and Chronic condition, chronic pain is sometimes determined by the amount of time since onset. Two commonly ...
, or early
osteoarthritis Osteoarthritis (OA) is a type of degenerative joint disease that results from breakdown of joint cartilage and underlying bone which affects 1 in 7 adults in the United States. It is believed to be the fourth leading cause of disability in the w ...
. EDS occurs due to
variations Variation or Variations may refer to: Science and mathematics * Variation (astronomy), any perturbation of the mean motion or orbit of a planet or satellite, particularly of the moon * Genetic variation, the difference in DNA among individua ...
of more than 19
genes In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
that are present at birth. The specific gene affected determines the type of EDS. Some cases result from a new variation occurring during early development, while others are inherited in an
autosomal dominant 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 termed dominant and t ...
or
recessive 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 termed dominant and t ...
manner. Typically, these variations result in defects in the structure or processing of the protein
collagen Collagen () is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole ...
. Diagnosis is often based on symptoms and confirmed by
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
or
skin biopsy Skin biopsy is a biopsy technique in which a skin lesion is removed to be sent to a pathologist to render a microscopic diagnosis. It is usually done under local anesthetic in a physician's office, and results are often available in 4 to 10 days. ...
, but people may initially be misdiagnosed with
hypochondriasis Hypochondriasis or hypochondria is a condition in which a person is excessively and unduly worried about having a serious illness. An old concept, the meaning of hypochondria has repeatedly changed. It has been claimed that this debilitating cond ...
, depression, or
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 ...
. A cure is not yet known and treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. Some forms of EDS result in a normal
life expectancy Life expectancy is a statistical measure of the average time an organism is expected to live, based on the year of its birth, current age, and other demographic factors like sex. The most commonly used measure is life expectancy at birth ...
, but those that affect
blood vessel The blood vessels are the components of the circulatory system that transport blood throughout the human body. These vessels transport blood cells, nutrients, and oxygen to the tissues of the body. They also take waste and carbon dioxide away ...
s generally decrease it. The hypermobile type of EDS (hEDS) affects at least one in 5,000 people globally; other types occur at lower frequencies. The prognosis depends on the specific disorder. Excess mobility was first described by
Hippocrates Hippocrates of Kos (; grc-gre, Ἱπποκράτης ὁ Κῷος, Hippokrátēs ho Kôios; ), also known as Hippocrates II, was a Greek physician of the classical period who is considered one of the most outstanding figures in the history of ...
in 400 BC. The syndromes are named after two physicians,
Edvard Ehlers Edvard Laurits Ehlers (26 March 1863 in Copenhagen – 7 May 1937) was a Danish dermatologist whose name was given to a group of rare genetic connective tissue disorders, known collectively as the Ehlers–Danlos syndromes (EDS), which were n ...
and Henri-Alexandre Danlos, who described them at the turn of the 20th century.


Types

In 2017, 13 subtypes of EDS were classified using specific diagnostic criteria. According to the Ehlers–Danlos Society, the syndromes can also be grouped by the symptoms determined by specific gene mutations. Group A disorders are those that affect primary collagen structure and processing. Group B disorders affect collagen folding and crosslinking. Group C are disorders of structure and function of myomatrix. Group D disorders are those that affect glycosaminoglycan biosynthesis. Group E disorders are characterized by defects in the complement pathway. Group F are disorders of intracellular processes, and Group G is considered to be unresolved forms of EDS.


Hypermobile EDS (hEDS)

Hypermobile EDS (hEDS, formerly categorized as type 3) is mainly characterized by hypermobility that affects both large and small joints. It may lead to frequent joint subluxations (partial dislocations) and dislocations. In general, people with this variant have skin that is soft, smooth, and velvety and bruises easily, and may have chronic muscle and/or bone pain. It affects the skin less than other forms. It has no available genetic test. hEDS is the most common of the 19 types of connective tissue disorders. Since no genetic test exists, providers have to diagnose hEDS based on what they know about the condition and the patient's physical attributes. Other than the general signs, attributes can include faulty connective tissues throughout the body, musculoskeletal issues, and family history. Along with these general signs and side effects, patients can have trouble healing. Women who are pregnant should be warned about things such as pre-labor rupture of membranes, drop in blood pressure with anesthesia, precipitate birth (very fast, active labor), malposition of bleeding, and more. New mothers with hEDS should pay extra attention to taking care of their babies. Mothers may have trouble taking care of babies because of the risk of dropping a baby due to weak connective tissue in arms and legs, falling, postpartum depression (more than the general population), and healing from the birthing process.


Genetics of Hypermobile EDS

While 12 of the 13 subtypes of EDS have genetic variations that can be tested for by
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
, there is no known genetic cause of hEDS. Recently, several labs and research initiatives have been attempting to uncover a potential hEDS gene. In 2018, the Ehlers–Danlos Society began the Hypermobile Ehlers–Danlos Genetic Evaluation (HEDGE) study. The ongoing study has screened over 1,000 people who have been diagnosed with hEDS by the 2017 criteria to evaluate their genome for a common mutation. To date, 200 people with hEDS have had
whole genome sequencing Whole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a s ...
, and 500 have had whole
exome The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing. This includes untranslated regions of messenger RNA (mRNA), and coding r ...
sequencing; this study aims to increase those numbers significantly. Promising outcomes of this increased screening have been reported by the Norris Lab, led by Russell Norris, in the Department of Regenerative Medicine and Cell Biology at
Medical University of South Carolina The Medical University of South Carolina (MUSC) is a public medical school in South Carolina. It opened in 1824 in Charleston as a small private college aimed at training physicians and has since established hospitals and medical facilities ac ...
. Using CRISPR Cas-9 mediated genome editing on mouse models of the disease, the lab has recently identified a "very strong candidate gene" for hEDS. This finding, and a greater understanding of cardiac complications associated with the majority of EDS subtypes, has led to the development of multiple druggable pathways involved in aortic and
mitral valve The mitral valve (), also known as the bicuspid valve or left atrioventricular valve, is one of the four heart valves. It has two cusps or flaps and lies between the left atrium and the left ventricle of the heart. The heart valves are all one-w ...
diseases. While this candidate gene has not been publicly identified, the Norris lab has conducted several studies involving small population genome sequencing and come up with a working list of possible hEDS genes. A mutation in ''COL3A1'' in a single family with autosomal dominant hEDS phenotype was found to cause reduced collagen secretion and an over-modification of collagen. In 35 families, copy number alterations in ''
TPSAB1 Tryptase alpha-1 and tryptase beta-1 are enzymes that in humans are encoded by the same ''TPSAB1'' gene. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Function Tryp ...
'', encoding alpha-tryptase, were associated with increased basal serum
tryptase Tryptase (, ) is the most abundant secretory granule-derived serine proteinase contained in mast cells and has been used as a marker for mast cell activation. Club cells contain tryptase, which is believed to be responsible for cleaving the hemag ...
levels, associated with
autonomic dysfunction Dysautonomia or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has ...
,
gastrointestinal disorders Gastrointestinal diseases (abbrev. GI diseases or GI illnesses) refer to diseases involving the gastrointestinal tract, namely the oesophagus, stomach, small intestine, large intestine and rectum, and the accessory organs of digestion, the live ...
, allergic and cutaneous symptoms, and connective tissue abnormalities, all concurrent with hEDS phenotype. Lastly,
Tenascin X A member of the tenascin family, tenascin X (TN-X) also known as flexillin or hexabrachion-like protein is a 450kDa glycoprotein that is expressed in connective tissues. TN-X possesses a modular structure composed, from the N- to the C-terminal pa ...
, an
extracellular matrix In biology, the extracellular matrix (ECM), also called intercellular matrix, is a three-dimensional network consisting of extracellular macromolecules and minerals, such as collagen, enzymes, glycoproteins and hydroxyapatite that provide stru ...
protein important for collagen mutation encoded by the ''TNXB'' gene, has been associated with hEDS in patients with Tenascin X deficiency. Another way the Norris lab is attempting to find this gene is by looking at genes involved in the formation of the aorta and mitral valves, as these valves are often prolapsed or malformed as a symptom of EDS. Because hEDS is such a complex, multi-organ disease, focusing on one hallmark trait has proven successful. One gene found this way is '' DZIP1'', which regulates cardiac valve development in mammals through a
CBY1 Protein chibby homolog 1 is a protein that in humans is encoded by the ''CBY1'' gene. Function Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interac ...
-beta-catenin mechanism. Mutations at this gene affect the
beta-catenin Catenin beta-1, also known as beta-catenin (β-catenin), is a protein that in humans is encoded by the ''CTNNB1'' gene. Beta-catenin is a dual function protein, involved in regulation and coordination of cell–cell adhesion and gene transcripti ...
cascade involved in development, causing malformation of the extracellular matrix, resulting in loss of collagen. A lack of collagen here is both consistent with hEDS and explains the "floppy" mitral and aortic valve heart defects. A second genetic study specific to mitral valve prolapse focused on the
PDGF Platelet-derived growth factor (PDGF) is one among numerous growth factors that regulate cell growth and division. In particular, PDGF plays a significant role in blood vessel formation, the growth of blood vessels from already-existing blood v ...
signaling pathway, which is involved in growth factor ligands and receptor isoforms. Mutations in this pathway affect the ability to localize cilia in various cell types, including cardiac cells. With the resulting ciliopathies, structures such as the cardiac outflow tract, heart tube assembly, and cardiac fusion are limited and/or damaged.


Classical EDS (cEDS)

Classical EDS (formerly categorized as type 1) is characterized by extremely elastic skin that is fragile and bruises easily and hypermobility of the joints. Molluscoid pseudotumors (calcified hematomas that occur over pressure points) and spheroids (cysts that contain fat occurring over forearms and shins) are also often seen. A side complication of the hyperelasticity presented in many EDS cases makes wounds closing on their own more difficult. Sometimes, motor development is delayed and hypotonia occurs. The variation causing this type of EDS is in the genes ''COL5A2, COL5A1,'' and less frequently ''COL1A1''. It involves the skin more than hEDS. In classical EDS, large variation in symptom presentation is seen. Because of this variance, EDS has often been underdiagnosed. Without genetic testing, healthcare professionals may be able to provide a provisional diagnosis based on careful examination of the mouth, skin, and bones, as well as by neurological assessment. A good way to begin the diagnosis process is looking at family history. EDS is an autosomal dominant condition, so is often inherited from parents. Genetic testing remains the most reliable way to diagnose EDS. No cure for type 1 EDS has been found, but a course of non-weight-bearing exercise can help with muscular tension, which can help correct some EDS symptoms. Anti-inflammatory drugs and lifestyle changes can help with joint pain. Lifestyle choices should also be made with children who have EDS to try to prevent wounds to the skin. Protective garments can help with this. In a wound, deep stitches are often used and left in place for longer than normal.


Vascular EDS (vEDS)

Vascular EDS (formerly categorized as type 4) is identified by skin that is thin, translucent, extremely fragile, and bruises easily. It is also characterized by fragile blood vessels and organs that can easily rupture. Affected people are frequently short, and have thin scalp hair. It also has characteristic facial features, including large eyes, an undersized chin, sunken cheeks, a thin nose and lips, and ears without lobes. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot, tendon and/or muscle rupture, acrogeria (premature aging of the skin of the hands and feet), early-onset varicose veins, pneumothorax (collapse of a lung), the recession of the gums, and a decreased amount of fat under the skin. It can be caused by the variations in the ''COL3A1'' gene. Rarely, ''COL1A1'' variations can also cause it.


Kyphoscoliosis EDS (kEDS)

Kyphoscoliosis EDS (formerly categorized as type 6) is associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. People may also have easy bruising, fragile arteries that are prone to rupture, unusually small corneas, and osteopenia (low bone density). Other common features include a "marfanoid habitus" characterized by long, slender fingers (arachnodactyly), unusually long limbs, and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). It can be caused by variations in the gene ''PLOD1'', or rarely, in the ''FKBP14'' gene.


Arthrochalasia EDS (aEDS)

Arthrochalasia EDS (formerly categorized as types 7A and B) is characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising, hypotonia, kyphoscoliosis (kyphosis and scoliosis), and mild osteopenia. Type-I collagen is usually affected. It is very rare, with about 30 cases reported. It is more severe than the hypermobility type. Variations in the genes'' COL1A1'' and ''COL1A2 ''cause it.


Dermatosparaxis EDS (dEDS)

Dermatosparaxis EDS (formerly categorized as type 7C) is associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; hypermobility ranging from mild to serious; and hernias. Variations in the ''ADAMTS2'' gene cause it. It is extremely rare, with around 11 cases reported.


Brittle-cornea syndrome (BCS)

Brittle-cornea syndrome is characterized by the progressive thinning of the
cornea The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power ...
, early-onset progressive
keratoglobus Keratoglobus (from Greek: ''kerato-'' horn, cornea; and Latin: ''globus'' round) is a degenerative non- inflammatory disorder of the eye in which structural changes within the cornea cause it to become extremely thin and change to a more globular ...
or keratoconus, nearsightedness, hearing loss, and blue
sclera The sclera, also known as the white of the eye or, in older literature, as the tunica albuginea oculi, is the opaque, fibrous, protective, outer layer of the human eye containing mainly collagen and some crucial elastic fiber. In humans, and som ...
e. Classic symptoms, such as hypermobile joints and hyperelastic skin, are also seen often. It has two types. Type 1 occurs due to variations in the ''ZNF469'' gene. Type 2 is due to variations in the ''PRDM5'' gene.


Classical-like EDS (clEDS)

Classical-like EDS is characterized by skin hyperextensibility with velvety skin texture and absence of atrophic scarring, generalized joint hypermobility with or without recurrent dislocations (most often shoulder and ankle), and easily bruised skin or spontaneous ecchymoses (discolorations of the skin resulting from bleeding underneath). It can be caused by variations in the ''TNXB'' gene.


Spondylodysplastic EDS (spEDS)

Spondylodysplastic EDS is characterized by short stature (progressive in childhood), muscle hypotonia (ranging from severe congenital to mild later-onset), and bowing of limbs. It can be caused by variations in both copies of the ''B4GALT7'' gene. Other cases can be caused by variations in the ''B3GALT6'' gene. People with variations in this gene can have kyphoscoliosis, tapered fingers, osteoporosis, aortic aneurysms, and problems with the lungs. Other cases can be caused by the ''SLC39A13'' gene. Those with variations in this gene have protuberant eyes, wrinkled palms of the hands, tapering fingers, and distal joint hypermobility.


Musculocontractural EDS (mcEDS)

Musculocontractural EDS is characterized by congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot), characteristic craniofacial features, which are evident at birth or in early infancy, and skin features such as skin hyperextensibility, bruising, skin fragility with atrophic scars, and increased palmar wrinkling. It can be caused by variations in the ''CHST14'' gene. Some other cases can be caused by variations in the ''DSE'' gene.


Myopathic EDS (mEDS)

Myopathic EDS (mEDS) is characterized by three major criteria: congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures of the knee, hip, and elbow, and hypermobility of distal joints (ankles, wrists, feet, and hands). Four minor criteria may also contribute to a diagnosis of mEDS. This disorder can be inherited through either an autosomal dominant or an autosomal recessive pattern. Molecular testing must be completed to verify that mutations in the ''COL12A1'' gene are present; if not, other collagen-type myopathies should be considered.


Periodontal EDS (pEDS)

Periodontal EDS (pEDS) is an autosomal-dominant disorder characterized by four major criteria of severe and intractable periodontitis of early-onset (childhood or adolescence), lack of attached gingiva, pretibial plaques, and family history of a first-degree relative who meets clinical criteria. Eight minor criteria may also contribute to the diagnosis of pEDS. Molecular testing may reveal mutations in ''C1R'' or ''C1S'' genes affecting the C1r protein.


Cardiac-valvular EDS (cvEDS)

Cardiac-valvular EDS (cvEDS) is characterized by three major criteria: severe progressive cardiac-valvular problems (affecting aortic and mitral valves), skin problems such as hyperextensibility, atrophic scarring, thin skin, and easy bruising, and joint hypermobility (generalized or restricted to small joints). Four minor criteria may aid in diagnosis of cvEDS. cvEDS is an autosomal recessive disorder, inherited through variation in both
allele An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chro ...
s of the gene ''COL1A2.''


Signs and symptoms

This group of disorders affects connective tissues across the body, with symptoms most typically present in the joints, skin, and blood vessels. However, as connective tissue is found throughout the body, EDS may result in an array of unexpected impacts with any degree of severity, and the condition is not limited to joints, skin, and blood vessels. Effects may range from mildly loose joints to life-threatening
cardiovascular The blood circulatory system is a system of organs that includes the heart, blood vessels, and blood which is circulated throughout the entire body of a human or other vertebrate. It includes the cardiovascular system, or vascular system, tha ...
complications. Due to the diversity of subtypes within the EDS family, symptoms may vary widely between individuals diagnosed with EDS.


Musculoskeletal

Musculoskeletal symptoms include hyperflexible joints that are unstable and prone to
sprain A sprain, also known as a torn ligament, is an acute soft tissue injury of the ligaments within a joint, often caused by a sudden movement abruptly forcing the joint to exceed its functional range of motion. Ligaments are tough, inelastic fibers ...
,
dislocation In materials science, a dislocation or Taylor's dislocation is a linear crystallographic defect or irregularity within a crystal structure that contains an abrupt change in the arrangement of atoms. The movement of dislocations allow atoms to sl ...
,
subluxation A subluxation is an incomplete or partial dislocation of a joint or organ. According to the World Health Organization (WHO), a subluxation is a "significant structural displacement", and is therefore always visible on static imaging studies, suc ...
, and
hyperextension Motion, the process of movement, is described using specific anatomical terms. Motion includes movement of organs, joints, limbs, and specific sections of the body. The terminology used describes this motion according to its direction relative ...
. There can be an early onset of advanced
osteoarthritis Osteoarthritis (OA) is a type of degenerative joint disease that results from breakdown of joint cartilage and underlying bone which affects 1 in 7 adults in the United States. It is believed to be the fourth leading cause of disability in the w ...
, chronic degenerative joint disease, swan-neck deformity of the fingers, and
Boutonniere deformity Boutonniere deformity is a deformed position of the fingers or toes, in which the joint nearest the knuckle (the proximal interphalangeal joint, or PIP) is permanently bent toward the palm while the farthest joint (the distal interphalangeal joi ...
of the fingers. Tearing of tendons or muscles may occur. Deformities of the spine, such as scoliosis (curvature of the spine),
kyphosis Kyphosis is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. Abnormal inward concave ''lordotic'' curving of the cervical and lumbar regions of the spine is called lordosis. It can result fr ...
(a thoracic hump),
tethered spinal cord syndrome Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord.craniocervical instability Craniocervical instability (CCI) is a medical condition where there is excessive movement of the vertebrae at the atlanto-occipital joint and the atlanto-axial joint, that is, between the skull and the top two vertebrae ( C1 and C2). This can cau ...
, and atlantoaxial instability may also be present. There can also be myalgia (muscle pain) and
arthralgia Arthralgia (from Greek ''arthro-'', joint + ''-algos'', pain) literally means ''joint pain''. Specifically, arthralgia is a symptom of injury, infection, illness (in particular arthritis), or an allergic reaction to medication. According to MeSH, ...
(joint pain), which may be severe and disabling.
Trendelenburg's sign Trendelenburg's sign is found in people with weak or paralyzed abductor muscles of the hip, namely gluteus medius and gluteus minimus. It is named after the German surgeon Friedrich Trendelenburg. It is often incorrectly referenced as the Tr ...
is often seen, which means that when standing on one leg, the pelvis drops on the other side.
Osgood–Schlatter disease Osgood–Schlatter disease (OSD) is inflammation of the patellar ligament at the tibial tuberosity (apophysitis). It is characterized by a painful bump just below the knee that is worse with activity and better with rest. Episodes of pain typica ...
, a painful lump on the knee, is common as well. In infants, walking can be delayed (beyond 18 months of age), and bottom-shuffling instead of crawling occurs. File:Ehlers-Danlos syndrome3.jpg, Individual with EDS showing hypermobile fingers, including the "swan-neck" malformation on the 2nd–5th digits, and a hypermobile thumb File:Ehlers-Danlos thumb.jpg, Individual with EDS displaying hypermobile thumb File:Ehlers-Danlos syndrome2.jpg, Individual with EDS displaying hypermobile
metacarpophalangeal joint The metacarpophalangeal joints (MCP) are situated between the metacarpal bones and the proximal phalanges of the fingers. These joints are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cav ...
s File:Kyphoscoliosis of the back of person with kyphoscoliosis EDS.png, Kyphoscoliosis of the back of someone with kyphoscoliosis EDS File:Arthrochalasia EDS.png, Severe joint hypermobility in a girl with EDS arthrochalasia type


Skin

The weak connective tissue causes abnormal skin. This may present as stretchy or in other types simply be velvet soft. In all types, some increased fragility occurs, but the degree varies depending on the underlying subtype. The skin may tear and bruise easily, and may heal with abnormal atrophic scars; atrophic scars that look like cigarette paper are a sign seen including in those whose skin might appear otherwise normal. In some subtypes, though not the hypermobile subtype, redundant skin folds occur, especially on the eyelids. Redundant skin folds are areas of excess skin lying in folds. Other skin symptoms include molluscoid pseudotumors, especially on pressure points,
petechia A petechia () is a small red or purple spot (≤4 mm in diameter) that can appear on the skin, conjunctiva, retina, and Mucous membrane, mucous membranes which is caused by haemorrhage of capillaries. The word is derived from Italian , 'freckle,' ...
e, subcutaneous spheroids,
livedo reticularis Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that appears as a lace-like purplish discoloration of the skin. The discoloration is caused by reduction in blood flow through the arterioles that supp ...
, and piezogenic papules are less common. In vascular EDS, skin can also be thin and translucent. In dermatosparaxis EDS, the skin is extremely fragile and saggy. File:Atrophic scar of Ehlers Danlos syndrome.jpg, Atrophic scar in a case of EDS File:PMC3567970 1752-1947-7-35-1 (cropped).png, Translucent skin in vascular EDS File:Ehlers-Danlos syndrome4.jpg, Individual with EDS displaying skin hyperelasticity File:Piezogenic papules.jpg, Piezogenic papules on the heel of an individual with hypermobile EDS File:Skinhyperelasticity-1.jpg, Skin hyperelasticity in the wrist


Cardiovascular

* Thoracic outlet syndrome * Arterial rupture *
Valvular heart disease Valvular heart disease is any cardiovascular disease process involving one or more of the four valves of the heart (the aortic and mitral valves on the left side of heart and the pulmonic and tricuspid valves on the right side of heart). These ...
, such as mitral valve prolapse, creates an increased risk for infective
endocarditis Endocarditis is an inflammation of the inner layer of the heart, the endocardium. It usually involves the heart valves. Other structures that may be involved include the interventricular septum, the chordae tendineae, the mural endocardium, or the ...
during surgery. This may progress to a life-threatening degree. Heart conduction abnormalities have been found in those with hypermobility form of EDS. * Dilation and/or rupture (
aneurysm An aneurysm is an outward bulging, likened to a bubble or balloon, caused by a localized, abnormal, weak spot on a blood vessel wall. Aneurysms may be a result of a hereditary condition or an acquired disease. Aneurysms can also be a nidus (s ...
) of ascending aorta * Cardiovascular autonomic dysfunction such as
postural orthostatic tachycardia syndrome Postural orthostatic tachycardia syndrome (POTS) is a condition characterized by an abnormally large increase in heart rate upon standing. Symptoms may include lightheadedness, brain fog, blurred vision, weakness, fatigue, headaches, heart ...
*
Raynaud's phenomenon Raynaud syndrome, also known as Raynaud's phenomenon, eponymously named after the physician Auguste Gabriel Maurice Raynaud, who first described it in his doctoral thesis in 1862, is a medical condition in which the spasm of small arteries cau ...
*
Varicose veins Varicose veins, also known as varicoses, are a medical condition in which superficial veins become enlarged and twisted. These veins typically develop in the legs, just under the skin. Varicose veins usually cause few symptoms. However, some indiv ...
*
Heart murmur Heart murmurs are unique heart sounds produced when blood flows across a heart valve or blood vessel. This occurs when turbulent blood flow creates a sound loud enough to hear with a stethoscope. Turbulent blood flow is not smooth. The sound di ...
* Heart conduction abnormalities


Other manifestations

*
Hiatal hernia A hiatal hernia or hiatus hernia is a type of hernia in which abdominal organs (typically the stomach) slip through the diaphragm into the middle compartment of the chest. This may result in gastroesophageal reflux disease (GERD) or laryngop ...
*
Gastroesophageal reflux Gastroesophageal reflux disease (GERD) or gastro-oesophageal reflux disease (GORD) is one of the upper gastrointestinal chronic diseases where stomach content persistently and regularly flows up into the esophagus, resulting in symptoms and/ ...
* Poor gastrointestinal motility *
Dysautonomia Dysautonomia or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia ha ...
* Gorlin's sign (touch tongue to nose) *
Anal prolapse A rectal prolapse occurs when walls of the rectum have prolapsed to such a degree that they protrude out of the anus and are visible outside the body. However, most researchers agree that there are 3 to 5 different types of rectal prolapse, depen ...
*
Flat feet Flat feet (also called pes planus or fallen arches) is a postural deformity in which the arches of the foot collapse, with the entire sole of the foot coming into complete or near-complete contact with the ground. Sometimes children are born ...
*
Tracheobronchomalacia Tracheobronchomalacia or TBM is a condition characterized by flaccidity of the tracheal support cartilage which leads to tracheal collapse. This condition can also affect the bronchi. There are two forms of this condition: primary TBM and seconda ...
/ tracheal collapse * Collapsed lung (
spontaneous pneumothorax A pneumothorax is an abnormal collection of air in the pleural space between the lung and the chest wall. Symptoms typically include sudden onset of sharp, one-sided chest pain and shortness of breath. In a minority of cases, a one-way valve i ...
) * Nerve disorders (
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 ...
,
acroparesthesia Paresthesia is an abnormal sensation of the skin (tingling, pricking, chilling, burning, numbness) with no apparent physical cause. Paresthesia may be transient or chronic, and may have any of dozens of possible underlying causes. Paresthesias ar ...
,
neuropathy Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the peripheral nerves, meaning nerves beyond the brain and spinal cord. Damage to peripheral nerves may impair sensation, movement, gland, or o ...
, including small fiber neuropathy) * Insensitivity to local anesthetics *
Arnold–Chiari malformation Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum (the opening at the base of the skull). CMs can cause headaches, difficu ...
*
Platelet aggregation Platelets, also called thrombocytes (from Greek θρόμβος, "clot" and κύτος, "cell"), are a component of blood whose function (along with the coagulation factors) is to react to bleeding from blood vessel injury by clumping, thereby ini ...
failure (platelets do not clump together properly) * Mast cell disorders (including
mast cell activation syndrome Mast cell activation syndrome (MCAS) is a type of mast cell activation disorder (MCAD), and is an immunological condition in which mast cells inappropriately and excessively release chemical mediators, resulting in a range of chronic symptoms, ...
and
mastocytosis Mastocytosis, a type of mast cell disease, is a rare disorder affecting both children and adults caused by the accumulation of functionally defective mast cells (also called ''mastocytes'') and CD34+ mast cell precursors. People affected by mas ...
) *
Pregnancy complications Complications of pregnancy are health problems that are related to pregnancy. Complications that occur primarily during childbirth are termed obstetric labor complications, and problems that occur primarily after childbirth are termed puerperal di ...
: increased pain, mild to moderate peripartum bleeding, cervical insufficiency, uterine tearing, or
premature rupture of membranes Prelabor rupture of membranes (PROM), previously known as premature rupture of membranes, is breakage of the amniotic sac before the onset of labor. Women usually experience a painless gush or a steady leakage of fluid from the vagina. Complicati ...
*
Hearing loss Hearing loss is a partial or total inability to Hearing, hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to Language ...
may occur in some types * Eye:
Nearsightedness Near-sightedness, also known as myopia and short-sightedness, is an eye disease where light focuses in front of, instead of on, the retina. As a result, distant objects appear blurry while close objects appear normal. Other symptoms may include ...
, retinal tearing and
retinal detachment Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized, but without rapid treatment the entire retina may detach, leading to vision loss and blin ...
, keratoconus, blue sclera, dry eye, Sjogren's syndrome, lens subluxation, angioid streaks,
epicanthal folds An epicanthic fold or epicanthus is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye. However, variation occurs in the nature of this feature and the possession of "partial epicanthic folds" or "slight ...
,
strabismus Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is focused on an object can alternate. The condition may be present occasionally or constantly. If present during a ...
, corneal scarring, brittle cornea syndrome,
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 both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble w ...
s, carotid-cavernous sinus fistulas,
macular degeneration Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred or no vision in the center of the visual field. Early on there are often no symptoms. Over time, however, som ...
*
Craniocervical instability Craniocervical instability (CCI) is a medical condition where there is excessive movement of the vertebrae at the atlanto-occipital joint and the atlanto-axial joint, that is, between the skull and the top two vertebrae ( C1 and C2). This can cau ...
: caused by trauma(s) to the head and neck areas such as concussion and whiplash. Ligaments in neck are unable to heal properly, so the neck structure does not have the ability to support the skull, which can then sink into the brain stem, blocking the flow of cerebrospinal fluid, leading to issues related to the autonomic nervous system failing to work properly. *
Osteoporosis Osteoporosis is a systemic skeletal disorder characterized by low bone mass, micro-architectural deterioration of bone tissue leading to bone fragility, and consequent increase in fracture risk. It is the most common reason for a broken bone ...
and osteopenia are associated with EDS and symptomatic joint hypermobility * There is some evidence that EDS may be associated with greater than expected frequencies of
neurodevelopmental disorder Neurodevelopmental disorders are a group of disorders that affect the development of the nervous system, leading to abnormal brain function which may affect emotion, learning ability, self-control, and memory. The effects of neurodevelopmental ...
s such as
attention deficit hyperactivity disorder Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterised by excessive amounts of inattention, hyperactivity, and impulsivity that are pervasive, impairing in multiple contexts, and otherwise age-inap ...
(ADHD) and other Learning disorder, learning, Communication disorder, communication and Motor disorder, motor issues, including autism spectrum conditions and Tourette syndrome. File:PMC2856381 IJD-55-86-g002.png, Gorlin's sign in a case of EDS File:A case of keratoglobus in a case of Brittle cornea syndrome.png, Keratoglobus in a case of EDS with brittle cornea syndrome Because it is often undiagnosed or misdiagnosed in childhood, some instances of EDS have been mischaracterized as child abuse. The pain may also be misdiagnosed as a behavior disorder or Munchausen biproxy, Munchausen by proxy. The pain associated with EDS ranges from mild to debilitating.


Causes

Every type of EDS except the hypermobile type (which affects the vast majority of people with EDS) can be positively tied to specific genetic variation. Mutation, Variations in these genes can cause EDS: * Collagen primary structure and collagen processing: ''ADAMTS2'', ''Collagen, type I, alpha 1, COL1A1'', ''Collagen, type I, alpha 2, COL1A2'', ''Collagen, type III, alpha 1, COL3A1'', ''Collagen, type V, alpha 1, COL5A1'', ''Collagen, type V, alpha 2, COL5A2'' * Collagen folding and collagen cross-linking: ''PLOD1'', ''FKBP14'' * Structure and function of myomatrix: ''Tenascin X, TNXB'', ''Collagen, type XII, alpha 1, COL12A1'' * Glycosaminoglycan biosynthesis: ''B4GALT7'', ''B3GALT6'', ''CHST14'', ''DSE (gene), DSE'' * Classical complement pathway, Complement pathway: ''Complement component 1r, C1R'', ''Complement component 1s, C1S'' * Intracellular processes: ''SLC39A13'', ''ZNF469'', ''PRDM5'' Variations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder. Inheritance patterns depend on the specific syndrome. Most forms of EDS are inherited in an autosomal dominant pattern, which means only one of the two copies of the gene in question must be altered to cause a disorder. A few are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected. It can also be an individual (''de novo'' or "sporadic") mutation, variation. Sporadic variations occur without any inheritance.


Diagnosis

A diagnosis can be made by an evaluation of medical history and clinical observation. The Hypermobility (joints)#Beighton criteria, Beighton criteria are widely used to assess the degree of joint hypermobility. DNA and biochemical studies can help identify affected people. Diagnostic tests include collagen gene-variant testing, collagen typing via skin biopsy, echocardiogram, and lysyl hydroxylase or oxidase activity, but these tests are not able to confirm all cases, especially in instances of an unmapped variation, so clinical evaluation remains important. If multiple members of a family are affected, prenatal diagnosis may be possible using a DNA information technique known as a linkage study. Knowledge about EDS among all kinds of practitioners is poor. Research is ongoing to identify genetic markers for all types.


Differential diagnosis

Several disorders share some characteristics with EDS. For example, in cutis laxa, the skin is loose, hanging, and wrinkled. In EDS, the skin can be pulled away from the body, but is elastic and returns to normal when let go. In Marfan syndrome, the joints are very mobile and similar cardiovascular complications occur. People with EDS tend to have a "marfanoid" appearance (e.g., tall, skinny, long arms and legs, "spidery" fingers), but physical appearance and features in several types of EDS also have characteristics including short stature, large eyes, and the appearance of a small mouth and chin, due to a small palate. The palate can have a high arch, causing dental crowding. Blood vessels can sometimes be easily seen through translucent skin, especially on the chest. The genetic connective tissue disorder Loeys–Dietz syndrome also has symptoms that overlap with EDS. In the past, Menkes disease, a copper metabolism disorder, was thought to be a form of EDS. People are commonly misdiagnosed with fibromyalgia, Coagulopathy, bleeding disorders, or other disorders that can mimic EDS symptoms. Because of these similar disorders and complications that can arise from an unmonitored case of EDS, a correct diagnosis is important. Pseudoxanthoma elasticum is worth consideration in diagnosis.


Management

No cure for Ehlers–Danlos syndromes is known, and treatment is supportive. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful. This can help stabilize the joints and prevent injury. Orthopedic instruments are helpful for the prevention of further joint damage, especially for long distances. People should avoid activities that cause the joint to lock or overextend. A physician may prescribe casting to stabilize joints. Physicians may refer a person to an orthotist for orthotics, orthotic treatment (bracing). Physicians may also consult a physical and/or occupational therapist to help strengthen muscles and to teach people how to properly use and preserve their joints. Aquatic therapy promotes muscular development and coordination. With manual therapy, the joint is gently mobilized within the range of motion and/or manipulations. If conservative therapy is not helpful, surgical joint repair may be necessary. Medication to decrease pain or manage cardiac, digestive, or other related conditions may be prescribed. To decrease Bruise, bruising and improve wound healing, some people have responded to vitamin C. Medical care workers often take special precautions because of the sheer number of complications that tend to arise in people with EDS. In vascular EDS, signs of chest or abdominal pain are considered trauma situations. Cannabinoids and medical marijuana have shown some efficacy in reducing pain levels. In general, medical intervention is limited to symptomatic therapy. Before pregnancy, people with EDS should have genetic counseling and familiarize themselves with the risks pregnancy poses. Children with EDS should be given information about the disorder so they can understand why they should avoid contact sports and other physically stressful activities. Children should be taught that they should not demonstrate the unusual positions they can maintain due to loose joints, as this may cause early degeneration of the joints. Emotional support along with behavioral and psychological therapy can be useful. Support groups can be immensely helpful for people dealing with major lifestyle changes and poor health. Family members, teachers, and friends should be informed about EDS so they can accept and assist the child.


Pain management

Successful treatment of chronic pain in EDS requires a multidisciplinary team. The ways to manage pain can be to modify pain management techniques used in the normal population. Chronic pain has two types. The first type is nociceptive, which is caused by an injury sustained to tissues. The second type is neuropathic pain, caused by abnormal signals by the nervous system. In most cases, the pain is an unequal mix of the two. Physiotherapy (exercise rehabilitation) can be helpful, especially stabilizing the core and the joints. Stretching exercises must be reduced to slow and gentle stretching to reduce the risks of dislocations or subluxations. Usable methods may include posture reeducation, muscle release, joint mobilization, trunk stabilization, and manual therapy for overworked muscles. Cognitive behavioural therapy is used in all chronic pain patients, especially those who have severe, chronic, life-controlling pain that is unresponsive to treatment. It had not been checked for efficiency in clinical trials. The state of pain management with EDS is considered insufficient.


Medications

Nonsteroidal anti-inflammatory drugs (Nonsteroidal anti-inflammatory drug, NSAIDs) may help if the pain is caused by inflammation. But long-term use of NSAIDs is often a risk factor for gastrointestinal, renal, and blood-related side effects. It can worsen symptoms of
mast cell activation syndrome Mast cell activation syndrome (MCAS) is a type of mast cell activation disorder (MCAD), and is an immunological condition in which mast cells inappropriately and excessively release chemical mediators, resulting in a range of chronic symptoms, ...
, a disease that may be associated with EDS. Acetaminophen can be used to avoid the bleeding-related side effects of NSAIDs. Opioids have shown efficiency in some EDS cases for the management of both acute and chronic pai
112
Lidocaine can be applied topically after subluxations and painful gums. It can also be injected into painful areas in the case of musculoskeletal pain. If the pain is neuropathic in origin, tricyclic antidepressants in low doses, anticonvulsants, and selective norepinephrine reuptake inhibitors can be used.


Dislocation and subluxation management

When a dislocation or subluxation does occur, muscle spasms and stress tend to occur, increasing pain and reducing the chances of the dislocation/subluxation naturally relieving. Methods to support a joint after such an incident include usage of a sling to hold the joint in place and allow it to relax. Orthopedic casts are not advised as there could be pain if unrelaxed muscles are still trying to spasm out against the cast. Other solutions to promote relaxation are heat, gentle massaging, and mental distractions.


Surgery

The instability of joints, leading to subluxations and joint pain, often requires surgical intervention in people with EDS. Instability of almost all joints can happen, but appears most often in the lower and upper extremities, with the wrist, fingers, shoulder, knee, hip, and ankle being most common. Common surgical procedures are joint debridement, tendon replacements, capsulorrhaphy, and arthroplasty. After surgery, the degree of stabilization, pain reduction, and people's satisfaction can improve, but surgery does not guarantee an optimal result; affected peoples and surgeons report being dissatisfied with the results. The consensus is that conservative treatment is more effective than surgery, particularly since people have extra risks of surgical complications due to the disease. Three basic surgical problems arise due to EDS – the strength of the tissues is decreased, which makes the tissue less suitable for surgery; the fragility of the blood vessels can cause problems during surgery; and wound healing is often delayed or incomplete. If considering surgical intervention, seeking care from a surgeon with extensive knowledge and experience in treating people with EDS and joint hypermobility issues would be prudent. Local anesthetics, arterial catheters, and central venous catheters cause a higher risk of haematoma, bruise formation in people with EDS. Some people with EDS also show a resistance to local anaesthetics. Resistance to lidocaine and bupivacaine is not uncommon, and mepivacaine tends to work better in people with EDS. Special recommendations for anesthesia are given for people with EDS. Detailed recommendations for anesthesia and perioperative care of people with EDS should be used to improve safety. Surgery in people with EDS requires careful tissue handling and a longer immobilization afterward.


Prognosis

The outcome for individuals with EDS depends on the specific type of EDS they have. Symptoms vary in severity, even in the same disorder, and the frequency of complications varies. Some people have negligible symptoms, while others are severely restricted in daily life. Extreme joint instability, chronic musculoskeletal pain, degenerative joint disease, frequent injuries, and spinal deformities may limit mobility. Severe spinal deformities may affect breathing. In the case of extreme joint instability, dislocations may result from simple tasks such as rolling over in bed or turning a doorknob. Secondary conditions such as autonomic dysfunction or cardiovascular problems, occurring in any type, can affect prognosis and quality of life. Severe mobility-related disability is seen more often in hEDS than in classical EDS or vascular EDS. Although all types of EDS are potentially life-threatening, most people have a normal lifespan. Those with blood vessel fragility, though, have a high risk of fatal complications, including spontaneous arterial rupture, which is the most common cause of sudden death. The median life expectancy in the population with vascular EDS is 48 years.


Complications


Vascular

* Pseudoaneurysm * Vascular lesions (nature is disputed) due to tears in the lining of the arteries or deterioration of congenitally thin and fragile tissue * Enlarged arteries


Gastrointestinal

* A 50% risk of colonic perforation exists.


Obstetric

* Pregnancy increases the likelihood of uterine rupture. * Maternal mortality is around 12%. * Uterine hemorrhage can occur during the postpartum recovery.


Epidemiology

Ehlers–Danlos syndromes are estimated to occur in about one in 5,000 births worldwide. Initially, prevalence estimates ranged from one in 250,000 to 500,000 people, but these were soon found to be low, as medical professionals became more adept at diagnosis. EDS may be far more common than the currently accepted estimate due to the wide range of severities with which the disorder presents. The prevalence of the disorders differs dramatically. The most common is hypermobile EDS, followed by classical EDS. The others are very rare. For example, fewer than 10 infants and children with dermatosparaxis EDS have been described worldwide. Some types of EDS are more common in Ashkenazi Jews. For example, the chance of being a carrier for dermatosparaxis EDS is one in 2,000 in the general population but one in 248 among Ashkenazi Jews.


History

Until 1997, the classification system for EDS included 10 specific types and acknowledged that other extremely rare types existed. At this time, the classification system underwent an overhaul and was reduced to six major types using descriptive titles. Genetic specialists recognize that other types of this condition exist, but have only been documented in single families. Except for Hypermobility (joints), hypermobility (type 3), the most common type of all 10 types, some of the specific variations involved have been identified, and they can be precisely identified by
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
; this is valuable due to a great deal of variation in individual cases. Negative genetic test results, though, do not rule out the diagnosis, since not all of the variations have been discovered; therefore, the clinical presentation is very important. Forms of EDS in this category may present with soft, mildly stretchable skin, shortened bones, chronic diarrhea, joint hypermobility and dislocation, bladder rupture, or poor wound healing. Inheritance patterns in this group include X-linked recessive, autosomal dominant, and autosomal recessive. Examples of types of related syndromes other than those above reported in the medical literature include: * : type 5 * : type 8 – unspecified gene, locus 12p13 * : type 10 – unspecified gene, locus 2q34 * : Beasley–Cohen type * : progeroid form – ''B4GALT7'' * : type unspecified * : ''D4ST1''-deficient Ehlers–Danlos syndrome (adducted thumb-clubfoot syndrome) ''CHST14''


Society and culture

EDS may have contributed to the virtuoso violinist Niccolò Paganini's skill, as he was able to play wider fingerings than a typical violinist. Many sideshow performers have EDS. Several of them were billed as the Elastic Skin Man, the India Rubber Man, and Frog Boy. They included such well-known individuals (in their time) as Felix Wehrle, James Morris, and Avery Childs. Two performers with EDS currently hold world records. Contortionist Daniel Browning Smith has hypermobile EDS and holds the current Guinness World Records, Guinness World Record for the most flexible man as of 2018, while Gary Turner (sideshow performer), Gary "Stretch" Turner, sideshow performer in the Circus Of Horrors, has held the current Guinness World Record for the most elastic skin since 1999, for his ability to stretch the skin on his stomach 6.25 inches.


Notable cases

* Actress Cherylee Houston has hypermobile EDS. She uses a wheelchair and was the first full-time disabled actress on ''Coronation Street'' * Drag queen and winner of the RuPaul's Drag Race (season 11), 11th season of ''RuPaul's Drag Race'' Yvie Oddly * Eric "The Actor" Lynch, Eric the Actor, a regular caller to ''The Howard Stern Show'' * Actress and activist Jameela Jamil * Writer and actress Lena Dunham * Australian singer Sia * Singer Halsey (singer), Halsey * YouTuber and disability rights activist Annie Segarra, Annie Elainey * Miss America 2020 Camille Schrier * Deaf singer/songwriter Mandy Harvey * Pornographic actress and writer Lorelei Lee (actress), Lorelei Lee * Reality show contestant Trevor Jones, dead from the vascular form of the disorder * Scrunchie creator Rommy Hunt Revson, dead from a ruptured aorta * Japanese Voice acting in Japan, voice actress and singer Tomori Kusunoki


Other species

Ehlers–Danlos-like syndromes have been shown to be hereditary in Himalayan cats, some domestic shorthair cats, and certain breeds of cattle. It is seen as a sporadic condition in domestic dogs. It has a similar treatment and prognosis. Animals with the condition should not be bred, as the condition can be inherited. File:Ehlers-Danlos syndrome 2.jpg, EDS in a dog File:Ehlers-Danlos Syndrome 1.jpg, Same dog with EDS File:Ehlers-Danlos syndrome 3.jpg, EDS in the same dog showing an atrophic scar Degenerative suspensory ligament desmitis is a similar condition seen in many breeds of horses. It was originally notated in the Peruvian Paso and thought to be a condition of overwork and older age, but it is being recognized in all age groups and all activity levels. It has been noted in newborn foals.


See also

* Hypermobility spectrum disorder


References


External links

* * {{DEFAULTSORT:Ehlers-Danlos syndrome Ehlers–Danlos syndrome, Abnormalities of dermal fibrous and elastic tissue Collagen disease Congenital disorders Connective tissue diseases Contortion Disorders of fascia Wikipedia medicine articles ready to translate Syndromes in mammals