Ehlers–Danlos syndrome

2097:. 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. 433:(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. 1071: 1032: 3913: 3323: 1133: 1056: 2137:

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.

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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.

2569: 1157: 1169: 1682: 2337: 2557: 1044: 1181: 2545: 1697: 1933:" appearance are often tall and thin with long arms and legs and "spidery" fingers while EDS phenotypes vary considerably. Certain subtypes of EDS may involve 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 7827: 7618: 7493: 6931: 6846: 6641: 5080: 4892: 3013: 1095: 1726: 1145: 2602: 2859: 1913:

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.

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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.

587:. 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. 2018:(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. 1448:. Craniocervical instability is 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, which in turn causes autonomic dysfunction. 417:, 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 2519:", the show's doctors are confronted with confusion when met with diagnosing a patient. Due to complex and contradicting symptoms presented by the patient the show's doctors ultimately give the diagnosis of EDS. This episode was based on conversations held by producers who talked with a patient and doctor who have EDS. 2497:

presents a main character, Violet Sorrengail, who has an unnamed chronic condition that aligns closely with EDS symptoms. When asked about this connection Rebecca Yarros agrees with the connection but says EDS goes unnamed due to the level of medical knowledge present in her story's world. Yarros has

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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

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In general, medical intervention is limited to symptomatic therapy. Before pregnancy, people with EDS may be recommended to have genetic counseling and to familiarize themselves with the risks pregnancy poses. Children with EDS should be given information about the disorder so they can understand why

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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.

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Pregnant individuals who have hEDS are at an increased risk for complications. Some possible complications are pre-labor rupture of membranes, a drop in blood pressure with anesthesia, precipitate birth (very fast, active labor), malposition of the fetus, and increased bleeding. Individuals with hEDS

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Until 1997, the classification system for EDS included ten specific types and acknowledged that other rarer 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

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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

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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.

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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

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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

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The collagen fibril and EDS: (a) Normal collagen fibrils are of uniform size and spacing. Fibrils from a person with dermatosparaxis (b) show dramatic alterations in fibril morphology with severe effects on the tensile strength of connective tissues. A person with classical EDS (c) shows composite

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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

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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

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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,

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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

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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

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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

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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

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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

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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

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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

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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

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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

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No cure for Ehlers–Danlos syndrome 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.

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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,

2238:, 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: 1291:

are common symptoms associated with Ehlers–Danlos syndrome and are often mistaken for endometriosis. Excessive menstrual bleeding can sometimes be attributed to inappropriate platelet aggregation, but faulty collagen leads to weakened capillary walls which increases likelihood of hemorrhage.

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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

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are more common in EDS patients when compared to control groups. Of note, patients who are already diagnosed with an inflammatory bowel disorder are not necessarily likely to develop symptoms of a connective tissue disorder, as the two have separate but not totally confounding etiologies.

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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

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that are present at birth. The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. Some cases result from a new variation occurring during early development, while others are inherited in an

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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

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is used in many chronic pain patients, especially those who have severe, chronic, life-controlling pain that is unresponsive to treatment. It has not been checked for efficiency in clinical trials. The state of pain management with EDS is considered insufficient.

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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

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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

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Dordoni C, Ciaccio C, Venturini M, Calzavara-Pinton P, Ritelli M, Colombi M (August 2016). "Further delineation of FKBP14-related Ehlers–Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review".

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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

842:), 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 2206:

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.

1344:, an inflammatory condition characterized by allergic-type reactions to various foods and chemicals and extensive esophageal remodeling, is eight times more likely in patients with connective tissue disorders when compared to patients without. 45: 489:

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

2231:; this is valuable due to a great deal of variation in individual cases. Negative genetic test results do not rule out the diagnosis since not all variations have been discovered; therefore, the clinical presentation is crucial. 2124:

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.

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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. Pain is classified into several types. One is

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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.

1987:. 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. 9259: 5532:

Laszkowska M, Roy A, Lebwohl B, Green PH, Sundelin HE, Ludvigsson JF (September 2016). "Nationwide population-based cohort study of celiac disease and risk of Ehlers–Danlos syndrome and joint hypermobility syndrome".

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Structurally, changes within the musculature in the intestine such as increased elastin, can lead to increased frequency of herniation. Laxity of the phreno-esophageal and gastro-hepatic ligaments can lead to

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Danese C, Castori M, Celletti C, Amato S, Lo Russo C, Grammatico P, Camerota F (September 2011). "Screening for celiac disease in the joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type".

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Narcisi P, Richards AJ, Ferguson SD, Pope FM (September 1994). "A family with Ehlers–Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen".

6050: 899:, 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 1356:

and delayed colonic transit are commonly related to EDS. These changes in transit speeds within the gastrointestinal system can cause a host of symptoms, including but not limited to abdominal pain,

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McIntosh LJ, Stanitski DF, Mallett VT, Frahm JD, Richardson DA, Evans MI (1996). "Ehlers–Danlos syndrome: relationship between joint hypermobility, urinary incontinence, and pelvic floor prolapse".

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fibrils. Fibrils from a TNX-deficient person (d) are uniform in size and no composite fibrils are seen. TNX-null (e) fibrils are less densely packed and not as well aligned to neighboring fibrils.

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Guarnieri V, Morlino S, Di Stolfo G, Mastroianno S, Mazza T, Castori M (May 2019). "Cardiac valvular Ehlers–Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2".

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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.

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Nelson AD, Mouchli MA, Valentin N, Deyle D, Pichurin P, Acosta A, Camilleri M (November 2015). "Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic".

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Zarate N, Farmer AD, Grahame R, Mohammed SD, Knowles CH, Scott SM, Aziz Q (March 2010). "Unexplained gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link?".

2328:, 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. 6504: 5910:

Castori M, Morlino S, Pascolini G, Blundo C, Grammatico P (March 2015). "Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type".

10353: 9541: 2035:) 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 9245: 7874: 2516: 1710:

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

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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.

1952:, 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. 496:

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

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While 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

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and altered vascular compliance have all been named as potential contributors to gastrointestinal complaints, particularly for patients who have a known, comorbid autonomic condition.

300:. Symptoms often 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 1070: 9534: 1315:

Research suggests a correlation between connective tissue disorders such as Ehlers–Danlos syndrome and both structural and functional problems within the gastrointestinal tract.

8164:"Lorelei Lee's Instagram profile post: "If it seems here on IG like I'm always having another medical procedure that's because it seems that way in real life too. You all are…"" 1696: 1454:

is also more frequently found in patients with EDS because of the instability at the juncture between skull and spine. This causes herniation of the posterior fossa below the

1972:(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. 7768: 3420: 3029: 7718: 472:

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

6399: 10621: 5662:"A magnetic resonance imaging study of gastric motor function in patients with dyspepsia associated with Ehlers–Danlos Syndrome-Hypermobility Type: A feasibility study" 4552:

Nijs J, Van Essche E, De Munck M, Dequeker J (July 2000). "Ultrasonographic, axial, and peripheral measurements in female patients with benign hypermobility syndrome".

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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

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High incidences of coexisting inflammatory disorders suggest a correlation between connective tissue disorders and the development of such aforementioned conditions.

3203:"Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history" 10501: 2590:

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.

6042: 10369: 9773: 8062: 7915: 4707: 6989:"Ehlers–danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations" 6192: 3777:"Ehlers–Danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations" 1025:, 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. 561:

Classical EDS is characterized by extremely elastic skin that is fragile and bruises easily and hypermobility of the joints. Molluscoid pseudotumors (calcified

8139: 4314: 456:, 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 9802: 9768: 6723: 5094: 6679:

Baeza-Velasco C (2021). "Neurodevelopmental atypisms in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes".

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Kapferer-Seebacher I, Lundberg P, Malfait F, Zschocke J (November 2017). "Periodontal manifestations of Ehlers–Danlos syndromes: A systematic review".

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Kciuk O, Li Q, Huszti E, McDermott CD (February 2023). "Pelvic floor symptoms in natal women with Ehlers–Danlos syndrome: an international survey study".

644:(present from birth), and scleral fragility. People may also have easy bruising, fragile arteries that are prone to rupture, unusually small corneas, and 1734:

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.

8466: 2227:(type 3), the most common type of all ten types, some of the specific variations involved have been identified, and they can be precisely identified by 1055: 5366:"Childbearing with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders: A Large International Survey of Outcomes and Complications" 1424:

Although neurogastroenterological manifestations in connective tissue disorders are common, their root cause is not yet known. Splanchnic circulation,

368: 7070: 3402: 2844: 6508: 2214:. 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. 1925:, 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 759:. 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 9709: 8833: 7579:

Pepin M, Schwarze U, Superti-Furga A, Byers PH (March 2000). "Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type".

2090: 1168: 9326: 8722: 7866: 6333:"Functional digestive symptoms and quality of life in patients with Ehlers–Danlos syndromes: results of a national cohort study on 134 patients" 5709:"Functional digestive symptoms and quality of life in patients with Ehlers–Danlos syndromes: results of a national cohort study on 134 patients" 924:

small joints). Four minor criteria may aid in diagnosis of cvEDS. cvEDS is an autosomal recessive disorder, inherited through variation in both

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Adib N, Davies K, Grahame R, Woo P, Murray KJ (June 2005). "Joint hypermobility syndrome in childhood. A not so benign multisystem disorder?".

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gene. Those with variations in this gene have protuberant eyes, wrinkled palms of the hands, tapering fingers, and distal joint hypermobility.

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can be applied topically after subluxations and painful gums. It can also be injected into painful areas in the case of musculoskeletal pain.

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signaling pathway, which is involved in growth factor ligands and receptor isoforms. Mutations in this pathway affect the ability to localize

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of the fingers. Tendon and ligament laxity offer minuscule protection from tearing in muscles and tendons, but these problems still persist.

7088: 4910:"Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type" 2531:, some domestic shorthair cats, and certain breeds of cattle. It is seen as a sporadic condition in domestic dogs, with higher frequency in 7325: 1126:

are less common. In vascular EDS, skin can also be thin and translucent. In dermatosparaxis EDS, the skin is extremely fragile and saggy.

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is usually affected. It is very rare, with about 30 cases reported. It is more severe than the hypermobility type. Variations in the genes

10017: 9797: 9792: 9782: 9308: 9169: 8993: 5269:"Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study" 4805: 2898: 2733: 2699: 2160:

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

2061: 1800: 616:(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 947:

complications. Due to the diversity of subtypes within the EDS family, symptoms may vary widely between individuals diagnosed with EDS.

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Musculocontractural EDS is characterized by congenital multiple contractures, characteristically adduction-flexion contractures and/or

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Individual with EDS showing hypermobile fingers, including the "swan-neck" malformation on the 2nd–5th digits, and a hypermobile thumb

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Kumskova M, Flora GD, Staber J, Lentz SR, Chauhan AK (July 2023). "Characterization of bleeding symptoms in Ehlers–Danlos syndrome".

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conjugation. Although research in this area is sparse, patients with joint hypermobility were found to have higher rates of indirect

1234: 7348:"The Academic and Psychosocial Impacts of Ehlers–Danlos Syndrome on Postsecondary Students: An Integrative Review of the Literature" 10561: 10151: 10146: 8394: 1651: 9069: 7133: 4336:

Wei DH, Terrono AL (October 2015). "Superficialis Sling (Flexor Digitorum Superficialis Tenodesis) for Swan Neck Reconstruction".

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Fikree A, Chelimsky G, Collins H, Kovacic K, Aziz Q (March 2017). "Gastrointestinal involvement in the Ehlers–Danlos syndromes".

4827: 2014:, caused by abnormal signals by the nervous system. In many cases, the pain individuals experience is an unequal mix of the two. 1880: 1144: 1132: 158: 7710: 6464: 2568: 800:(ranging from severe congenital to mild later-onset), and bowing of limbs. It can be caused by variations in both copies of the 9212: 8828: 7326:"Topics in Pain Management: pain management in patients with hypermobility disorders: frequently missed causes of chronic pain" 6407: 4760: 1043: 17: 4374: 2535:. It has a similar treatment and prognosis. Animals with the condition should not be bred, as the condition can be inherited. 1681: 9763: 9622: 9109: 8953: 8439: 4964: 242: 5661: 10283: 9868: 9190: 8238:[Tomori Kusunoki announces that she has Ehlers–Danlos syndrome, and quits her role as Setsuna Yuki in 'Nijigaku']. 5863:"Hypermobile Ehlers–Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know" 3491: 2666: 473: 8477: 7689: 4982:"Postural orthostatic tachycardia syndrome (POTS): association with Ehlers–Danlos syndrome and orthopaedic considerations" 684:

Arthrochalasia EDS (formerly categorized as types 7A and B) is characterized by severe joint hypermobility and congenital

10636: 10616: 9758: 9526: 9467: 9074: 9053: 8715: 8210: 7967: 4130:

Nitahara-Kasahara Y, Mizumoto S, Inoue YU, Saka S, Posadas-Herrera G, Nakamura-Takahashi A, et al. (December 2021).

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Marathe N, Lohkamp LN, Fehlings MG (December 2022). "Spinal manifestations of Ehlers–Danlos syndrome: a scoping review".

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Periodontal EDS (pEDS) is an autosomal-dominant disorder characterized by four major criteria of severe and intractable

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Zeitoun JD, Lefèvre JH, de Parades V, Séjourné C, Sobhani I, Coffin B, Hamonet C (2013-11-22). Karhausen J (ed.).

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is not limited to joints, skin, and blood vessels. Effects may range from mildly loose joints to life-threatening

44: 10586: 10566: 10516: 10486: 10363: 10136: 9841: 9714: 9699: 9174: 2615: 1909: 1405: 250: 9655: 5143:

Blagowidow N (December 2021). "Obstetrics and gynecology in Ehlers–Danlos syndrome: A brief review and update".

10200: 10111: 9888: 9431: 9273: 8708: 1635: 1451: 1307:, torn and stretched ligaments, and skin tearing can all be linked to altered structure of connective tissues. 1295:

In cases of pregnancy, patients with Ehlers–Danlos syndrome are more likely to experience complications during

1254: 534: 9237: 8011: 3828:"Genetic testing for vascular Ehlers–Danlos syndrome and other variants with fragility of the middle arteries" 3592:"Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number" 3507:"Hypermobile Ehlers–Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes" 10651: 10631: 10526: 10479: 10106: 10029: 9743: 9689: 9501: 9436: 9372: 9031: 7166:"Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers–Danlos syndrome" 2372: 2036: 2019: 1613: 1094: 995: 514:, allergic and cutaneous symptoms, and connective tissue abnormalities, all concurrent with hEDS phenotype. 7840: 4509:

Carbone L, Tylavsky FA, Bush AJ, Koo W, Orwoll E, Cheng S (2000). "Bone density in Ehlers–Danlos syndrome".

3953:"Ehlers–Danlos arthrochalasia type (VIIA-B) – expanding the phenotype: from prenatal life through adulthood" 3052:

Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, et al. (March 2017).

1269:

in female patients with Ehlers–Danlos syndrome. Patients may also experience voiding difficulties, frequent

10656: 10646: 9934: 9626: 3951:

Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, et al. (August 2012).

3104:

Doolan BJ, Lavallee ME, Hausser I, Schubart JR, Michael Pope F, Seneviratne SL, et al. (23 Jan 2023).

1849: 1022: 8688: 7739: 7062: 4028: 2836: 10551: 10268: 9928: 9416: 9380: 9291: 8700: 8332: 2512: 1968:

A physician may prescribe casting to stabilize joints. Physicians may refer a person to an orthotist for

1811: 1767: 1647: 491: 7401:"Recommendations for anesthesia and perioperative management in patients with Ehlers–Danlos syndrome(s)" 857:

As of 2021, 48 individuals have been reported to have mcEDS-CHST14, while 8 individuals have mcEDS-DSE.

10141: 10012: 9457: 4955:

Wenstrup RJ, Hoechstetter LB (2001). "The Ehlers–Danlos Syndromes". In Allanson JE, Cassidy SB (eds.).

4649: 2234:

Forms of EDS in this category may present with soft, mildly stretchable skin, shortened bones, chronic

1944:, a copper metabolism disorder, was thought to be a form of EDS. People are commonly misdiagnosed with 1445: 1324: 1217: 999: 782:(discolorations of the skin resulting from bleeding underneath). It can be caused by variations in the 320:. The current classification was last updated in 2017, when a number of rarer forms of EDS were added. 8254: 4460:

Henderson FC, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, et al. (March 2017).

868:, formally known as Myopathic EDS (mEDS), is characterized by three major criteria: congenital muscle 10626: 10345: 9911: 9893: 9636: 9313: 9227: 9200: 8879: 6106: 2556: 2112:

in people with EDS. Some people with EDS also show a resistance to local anaesthetics. Resistance to

1779: 1773: 1761: 1755: 1502: 1062: 457: 414: 297: 8272: 7793: 7593: 7372: 5570:"High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders" 3912: 3421:"Pregnancy, birth, feeding, and hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorders" 3322: 340:

manner. Typically, these variations result in defects in the structure or processing of the protein

10186: 10174: 10132: 10118: 10096: 10086: 10082: 9990: 9985: 9980: 9976: 9968: 9939: 8592: 3879: 3374:

Levy HP (1993). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.).

2128:

Surgery in people with EDS requires careful tissue handling and a longer immobilization afterward.

2105: 2053: 1953: 1934: 1572: 1341: 1197: 511: 246: 7941: 6331:

Zeitoun JD, Lefèvre JH, de Parades V, Séjourné C, Sobhani I, Coffin B, Hamonet C (November 2013).

6107:"Symptomatic Chiari malformations: An analysis of presentation, management, and long-term outcome" 4132:"A new mouse model of Ehlers–Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing" 2203:

currently accepted estimate due to the wide range of severities with which the disorder presents.

10464: 9883: 9846: 9694: 9453: 9367: 8766: 7084: 6654: 6003: 4273: 4248: 2438: 1888:

resulting in the features of the disorder. Inheritance patterns depend on the specific syndrome.

1860: 1854: 1623: 1534: 1270: 1239: 1018: 462: 413:

In 2017, 13 subtypes of EDS were classified using specific diagnostic criteria. According to the

382:

and bracing may help strengthen muscles and support joints. Some forms of EDS result in a normal

141: 6724:"Redlands mother stung by untrue suspicions presses for accountability in child abuse inquiries" 6277: 6146:"Chiari Malformation Type 1: A Systematic Review of Natural History and Conservative Management" 2544: 10581: 10546: 10469: 10263: 10251: 10101: 10070: 9944: 9897: 9873: 9362: 9269: 9081: 8848: 8807: 7588: 3106:"Extracutaneous features and complications of the Ehlers–Danlos syndromes: A systematic review" 2321: 2224: 1659: 1631: 1579: 1425: 1300: 1205: 402: 229: 8632: 8536: 8478:"Revenge of the gaslit patients: Now, as scientists, they're tackling Ehlers–Danlos syndromes" 7986: 4789: 2882: 2717: 1021:

is often seen, which means that when standing on one leg, the pelvis drops on the other side.

444:

The Medical University of South Carolina discovered a gene variant common with hEDS patients.

10446: 10357: 9733: 9582: 7109: 6505:"Patients Suffering from Ehlers Danlos Syndrome Type III Do Not Respond to Local Anesthetics" 2467: 2451: 2377: 2363: 2317: 1565: 1266: 1209: 980: 546: 438: 3826:

Rakhmanov Y, Maltese PE, Bruson A, Castori M, Beccari T, Dundar M, Bertelli M (2018-09-01).

3251: 2970:

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. (March 2017).

1929:, the joints are very mobile and similar cardiovascular complications occur. People with a " 1646:

There is some evidence that EDS may be associated with greater than expected frequencies of

796:

Spondylodysplastic EDS is characterized by short stature (progressive in childhood), muscle

10436: 10338: 9856: 9485: 9462: 9337: 6421: 6344: 5720: 5660:

Menys A, Keszthelyi D, Fitzke H, Fikree A, Atkinson D, Aziz Q, Taylor SA (September 2017).

4908:

Camerota F, Castori M, Celletti C, Colotto M, Amato S, Colella A, et al. (July 2014).

2349:

has hypermobile EDS. She uses a wheelchair and was the first full-time disabled actress on

2340:

Stevie Boebi and Annie Elainey, who have EDS, standing with mobility aids on the red carpet

1606: 1506: 375: 260: 222: 9556: 7284: 7246: 5568:

Abonia JP, Wen T, Stucke EM, Grotjan T, Griffith MS, Kemme KA, et al. (August 2013).

1908:

A diagnosis can be made by an evaluation of medical history and clinical observation. The

8: 10641: 10244: 10123: 9673: 9631: 9614: 9604: 9587: 9557: 9506: 9009: 8657: 8581: 8571: 8501: 8063:"Living with little-known disorder Ehlers–Danlos sparked Miss Virginia's love of science" 7508:"Ehlers–danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications" 7164:

Rombaut L, Malfait F, De Wandele I, Cools A, Thijs Y, De Paepe A, Calders P (July 2011).

4729: 2174: 1436:

Chronic headaches are common in patients with Ehlers–Danlos syndrome, whether related to

1220:. Heart conduction abnormalities have been found in those with hypermobility form of EDS. 976: 892: 835: 337: 238: 6803:

Chopra P, Tinkle B, Hamonet C, Brock I, Gompel A, Bulbena A, Francomano C (March 2017).

6754:

Chopra P, Tinkle B, Hamonet C, Brock I, Gompel A, Bulbena A, Francomano C (March 2017).

6348: 5724: 5392: 5365: 4106: 3703:. In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). 2305: 1486: 390:

generally decrease it. All forms of EDS can result in fatal outcomes for some patients.

10506: 10022: 9719: 9665: 9645: 9596: 9303: 9131: 8802: 8586: 7532: 7507: 7481: 7427: 7400: 7227: 7015: 6988: 6969: 6919: 6834: 6785: 6704: 6629: 6590:"Pregnancy and the Ehlers–Danlos syndrome: a retrospective study in a Dutch population" 6570: 6375: 6362: 6332: 6313: 6258: 6082: 6065: 5979: 5954: 5935: 5887: 5862: 5840: 5792: 5767: 5743: 5708: 5689: 5642: 5594: 5569: 5514: 5346: 5295: 5268: 5246: 5168: 5125: 5068: 5014: 5001: 4981: 4937: 4880: 4864: 4621: 4596: 4577: 4534: 4491: 4439: 4206: 4158: 4131: 3977: 3952: 3857: 3803: 3776: 3757: 3667: 3640: 3616: 3591: 3531: 3506: 3232: 3183: 3132: 3105: 3083: 3001: 2938: 2913: 2791: 1711: 1478: 1388: 1332: 1328: 1274: 1123: 1119: 944: 877:

recessive pattern. Molecular testing must be completed to verify that mutations in the

333: 305: 150: 131: 8497:"A doctor struggled with a rare, incurable syndrome. Now she helps others overcome it" 8037: 7826: 7617: 7492: 6930: 6845: 6640: 6606: 6478: 6019: 5079: 4891: 4819: 3012: 10531: 10491: 10413: 10288: 10232: 10166: 9831: 9446: 9390: 9322: 9147: 8823: 8818: 8603: 8445: 8435: 8348: 8313: 7815: 7667: 7606: 7537: 7473: 7468: 7451: 7432: 7266: 7185: 7020: 6961: 6911: 6906: 6826: 6777: 6708: 6696: 6621: 6562: 6456: 6444: 6380: 6305: 6297: 6250: 6242: 6173: 6165: 6126: 6087: 6023: 5984: 5927: 5892: 5832: 5797: 5748: 5681: 5634: 5630: 5599: 5550: 5518: 5506: 5470: 5435: 5397: 5350: 5338: 5300: 5250: 5238: 5203: 5172: 5160: 5117: 5060: 5019: 4960: 4929: 4909: 4872: 4795: 4676: 4626: 4569: 4526: 4483: 4431: 4353: 4198: 4163: 3982: 3968: 3901: 3849: 3808: 3749: 3708: 3672: 3621: 3572: 3536: 3383: 3311: 3257: 3224: 3187: 3175: 3137: 3075: 2993: 2943: 2888: 2783: 2723: 2507: 2460: 2351: 2101: 1817: 1671: 1655: 1601: 960: 955:

Musculoskeletal symptoms include hyperflexible joints that are unstable and prone to

452:

While 12 of the 13 subtypes of EDS have genetic variations that can be tested for by

418: 364: 301: 294: 213: 146: 119: 7646:"Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type" 7231: 6923: 6633: 6222: 5939: 5844: 5646: 5129: 4941: 4768: 4581: 4443: 4210: 3861: 3761: 3201:

Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H (March 2017).

2914:"A Case of Spondylodysplastic Ehlers–Danlos Syndrome With Comorbid Hypophosphatasia" 2766:

Lawrence EJ (December 2005). "The clinical presentation of Ehlers–Danlos syndrome".

1114:

Other skin symptoms include molluscoid pseudotumors, especially on pressure points,

10418: 10053: 9864: 9836: 9427: 9098: 8942: 8844: 8793: 8748: 8643: 8427: 8340: 8303: 7805: 7657: 7598: 7527: 7519: 7485: 7463: 7422: 7412: 7347: 7258: 7219: 7177: 7010: 7000: 6973: 6953: 6901: 6838: 6816: 6789: 6767: 6688: 6611: 6601: 6574: 6552: 6370: 6352: 6317: 6289: 6262: 6234: 6157: 6118: 6077: 6015: 5974: 5966: 5919: 5882: 5874: 5824: 5787: 5779: 5738: 5728: 5673: 5626: 5589: 5581: 5542: 5498: 5462: 5427: 5387: 5377: 5330: 5290: 5280: 5230: 5195: 5152: 5109: 5072: 5050: 5009: 4993: 4921: 4884: 4854: 4616: 4608: 4561: 4518: 4495: 4473: 4421: 4413: 4382: 4345: 4190: 4153: 4143: 3972: 3964: 3891: 3839: 3798: 3788: 3741: 3662: 3652: 3611: 3603: 3564: 3526: 3518: 3301: 3236: 3214: 3167: 3127: 3117: 3087: 3065: 3005: 2983: 2933: 2925: 2795: 2775: 2532: 2425:

Baroque flutist, musicologist and broadcast classical music presenter Hannah French

2346: 2011: 1687: 1474: 865: 661: 657: 466: 379: 324: 196: 124: 65: 8426:. Advances in Experimental Medicine and Biology. Vol. 802. pp. 231–240. 6527: 5693: 5466: 4538: 1520:

and instability of the bones in the inner ear may also contribute to hearing loss

188:, kyphoscoliosis, arthrochalasia, dermatosparaxis, brittle cornea syndrome, others 10441: 9959: 9354: 8898: 8597: 8431: 6357: 6238: 5955:"Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review" 5783: 5733: 5039:"Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome-Hypermobile type" 2607: 2471: 2456:

Reality show contestant Trevor Jones, dead from the vascular form of the disorder

2420: 2402: 2336: 2228: 1975: 1926: 1667: 1583: 1490: 1459: 1336: 1304: 1228: 1224: 971:. As a result of frequent tissue injury, there can be an early onset of advanced 819: 709: 685: 453: 383: 360: 352: 234: 218: 10279:

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome

7810: 7662: 7645: 7602: 6400:"Gastrointestinal manifestations of Ehlers–Danlos syndrome (hypermobility type)" 5037:

Hakim A, O'Callaghan C, De Wandele I, Stiles L, Pocinki A, Rowe P (March 2017).

3639:

Moore K, Fulmer D, Guo L, Koren N, Glover J, Moore R, et al. (March 2021).

1006:

and osteopenia are also associated with EDS and symptomatic joint hypermobility

441:(more than the general population), and slow healing from the birthing process. 10556: 10541: 10474: 10256: 10227: 10077: 10041: 9995: 9954: 9650: 9573: 9398: 9267: 9195: 8255:"What Condition Does Violet Have in Fourth Wing? Rebecca Yarros Reveals Answer" 7685: 7262: 7181: 6161: 6122: 5585: 5334: 5234: 4349: 3590:

Lyons JJ, Yu X, Hughes JD, Le QT, Jamil A, Bai Y, et al. (December 2016).

3171: 2929: 2779: 2494: 2211: 2155: 2057: 1941: 1663: 1467: 1455: 1244: 972: 968: 883:

gene are present; if not, other collagen-type myopathies should be considered.

873: 811: 693: 653: 609: 529: 317: 154: 8677: 8674: 8671: 8668: 8646: 8608: 8551: 7417: 6293: 5970: 5546: 5285: 5113: 4997: 4925: 3896: 3375: 3122: 739:

gene cause it. It is extremely rare, with around 11 cases reported worldwide.

636:

Kyphoscoliosis EDS (formerly categorized as type 6) is associated with severe

10610: 10403: 10323: 9907: 8988: 8740: 7555: 7523: 6366: 6301: 6246: 6169: 6145: 5768:"Investigation of joint hypermobility in individuals with hyperbilirubinemia" 5005: 4868: 4675:(2nd ed.). Philadelphia: Lippincott Williams and Wilkins. pp. 5–6. 4224: 3853: 3700: 2863: 2587: 2528: 2445: 2411: 2384: 2223:

condition exist but have only been documented in single families. Except for

2040: 2015: 1555: 1539: 1529: 1401: 1353: 398: 5095:"Mechanisms of varicose vein formation: valve dysfunction and wall dilation" 4107:"Ehlers–Danlos syndrome, musculocontractural type - Conditions – GTR – NCBI" 3505:

Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA (March 2021).

2308:'s skill, as he was able to play wider fingerings than a typical violinist. 747:

Brittle-cornea syndrome is characterized by the progressive thinning of the

10408: 10398: 10334: 10315: 9565: 9441: 8449: 8163: 8038:"Here's What YouTuber Annie Elainey Wants You to Know About Being Disabled" 7867:"Houston hits out at 'preconceived ideas' – Coronation Street News – Soaps" 7671: 7610: 7541: 7477: 7436: 7301: 7270: 7189: 7038: 7024: 6965: 6915: 6890:"Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests" 6830: 6781: 6700: 6625: 6566: 6460: 6384: 6309: 6254: 6177: 6091: 6027: 5988: 5931: 5896: 5836: 5801: 5752: 5685: 5638: 5603: 5554: 5510: 5474: 5439: 5401: 5382: 5342: 5304: 5267:

Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel A (September 2016).

5242: 5164: 5121: 5064: 5023: 4933: 4876: 4573: 4530: 4487: 4435: 4357: 4202: 4167: 3986: 3950: 3905: 3844: 3812: 3753: 3712: 3676: 3625: 3568: 3540: 3387: 3347: 3315: 3306: 3289: 3228: 3179: 3141: 3079: 2997: 2947: 2787: 2429: 2416: 2094: 1949: 1945: 1820: 1702: 1640: 1617: 1544: 1517: 1516:

is common, both conductive and sensorineural, and is most often bilateral.

1513: 1437: 1416:

occur with greater frequency in patients with weakened connective tissues.

1369: 1284: 1249: 1213: 1003: 815: 752: 613: 542: 507: 486: 430: 387: 313: 8730: 8344: 8317: 7819: 7223: 7005: 6809: