Ehlers-Danlos syndrome (EDS) (also known as “Cutis hyperelastica”) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (a protein in connective tissue). The collagen in connective tissue helps tissues to resist deformation (decreases its elasticity). In the skin, muscles, ligaments, blood vessels, and visceral organs collagen plays a very significant role and with increased elasticity, secondary to abnormal collagen, pathology results. Depending on the individual mutation, the severity of the syndrome can vary from mild to life-threatening. There is no cure and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems. Corrective surgery may help with some of the problems that may develop in certain types of EDS, although the condition means that extra caution is advised and special practices observed.
The syndrome is named after two doctors, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who identified it at the turn of the 20th century.
Signs vary widely based on which type of EDS the patient has. In each case, however, the signs are ultimately due to faulty or reduced amounts of Type 3 collagen. EDS most typically affects the joints, skin, and blood vessels, the major signs and symptoms include:
Highly flexible fingers and toes
Loose, unstable joints that are prone to: sprains, dislocations, subluxations (partial dislocations),hyperextension (double jointedness) 
High and narrow palate, a sign, resulting in dental crowding
Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm)
Velvety-smooth skin which may be stretchy
Abnormal wound healing and scar formation
Low muscle tone and Muscle weakness
Early onset of osteoarthritis
Cardiac effects: Dysautonomia typically accompanied by Valvular heart disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse) 
Fibromyalgia symptoms: Myalgia and arthralgia
Other, less common signs and complications may include:
Osteopenia (low bone density)
Talipes equinovarus (club foot), especially in the Vascular type
Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility,Arnold-Chiari malformation
Functional bowel disorders (functional gastritis, irritable bowel syndrome)
Nerve compression disorders (carpal tunnel syndrome, acroparesthesia, neuropathy) 
Vascular skin conditions: Raynaud’s phenomenon, Livedo reticularis
otosclerosis (hearing loss) 
Premature rupture of membranes during pregnancy
Platelet aggregation failure (platelets do not clump together properly) 
Infants with hypermobile joints often appear to have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking
Arterial/intestinal/uterine fragility or rupture
Swan neck deformity of the fingers 
Because it is often goes undiagnosed in childhood, some instances of Ehlers-Danlos syndrome have been mischaracterized as child abuse. The pain, a symptom, associated with this condition is a serious complication.
In the past, there were more than 10 recognized types of Ehlers-Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names. These six major types are listed here. Other types of the condition may exist, but they have been reported only in single families or are not well characterized. Except for hypermobility, the specific mutations involved have been identified and they can be precisely identified by genetic testing; this is valuable due to a great deal of variation in individual presentation of symptoms which may confuse classification of individuals on purely symptomatic basis. In order of prevalence in the population, they are:
|Hypermobility||type 3||Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant. Extreme flexibility is the hallmark of this type.||130020||COL3A1,TNXB|
|Classical||types 1 & 2||Affects approximately 2 to 5 in 100,000 people. It is caused by autosomal dominant mechanism and affects type-V collagen, as well as type I. Type 1 typically presents with severe skin involvement, and type 2 presents with mild to moderate skin involvement.||130000,130010||COL5A1,COL5A2,COL1A1|
|Vascular||type 4||Is an autosomal dominant defect in the type-III collagen synthesis; affecting approximately 1 in 100,000 to 250,000 people. The vascular type is considered one of the more serious forms of Ehlers-Danlos syndrome because blood vessels and organs are more prone to tearing (rupture). Patients with EDS type 4 often express a characteristic facial appearance (large eyes, small chin, thin nose and lips, lobeless ears), have a small stature with a slim build, and typically have thin, pale, translucent skin (veins can usually be seen on the chest and abdomen). About one in four people with vascular type EDS develop a significant health problem by age 20 and more than 80 percent develop life-threatening complications by age 40.||130050||COL3A1|
|Kyphoscoliosis||type 6||Is an autosomal dominant defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness.||225400,229200||PLOD1|
|Arthrochalasis||types 7A & B||Is also very rare, with about 30 cases reported. It affects type-I collagen. The arthrochalasia type is characterised by very loose joints and dislocations involving both hips.||130060||COL1A1,COL1A2|
|Dermatosparaxis||type 7C||Also very rare, with about 10 cases reported. The dermatosparaxis type is characterised by extremely fragile and sagging skin.||225410||ADAMTS2|
Although the above classifications are well defined, it is rare for a case to fit neatly in a single category, and cross-over symptoms lead to under-diagnosis or mis-diagnosis. So patients should not rely on the “fact” of having a certain type of EDS if cross-over symptoms are evident and might be life-threatening.
“The large number of distinct types of the Ehlers-Danlos syndrome that have already been identified indicates great heterogeneity, but clearly that heterogeneity is not exhausted by the present classification.”  Forms of EDS within 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 within 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:
305200 – Type 5
130080 – Type 8 – unspecified gene, locus 12p13
225310 – Type 10 – unspecified gene, locus 2q34
608763 – Beasley-Cohen type
130090 – Type unspecified
Mutations in the following can cause Ehlers-Danlos syndrome:
Mutations 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 throughout the body. 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 type of Ehlers-Danlos syndrome. Most forms of the condition 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 the disorder. The minority are inherited in an autosomal recessive pattern, which means both copies of the gene must be altered for a person to be affected by the condition. It can also be an individual (de novo or “sporadic”) mutation. Please refer to the summary for each type of Ehlers-Danlos syndrome for a discussion of its inheritance pattern.
A diagnosis can be made by clinical observation. Both DNA and biochemical studies can be used to help identify affected individuals. In some cases, a skin biopsy has been found to be useful in confirming a diagnosis. Unfortunately, these tests are not sensitive enough to identify all individuals with EDS. If there are multiple affected individuals in a family, it may be possible to perform prenatal diagnosis using a DNA information technique known as a linkage study.
Ehlers-Danlos Syndrome is an inherited disorder estimated to occur in about 1 in 5000 births worldwide. Ehlers Danlos affects both males and females of all racial and ethnic backgrounds. Initially, prevalence estimates have previously ranged from 1 in 250,000 to 1 in 500,000 people, but these estimates were soon found to be vastly inaccurate as the disorder received further study and medical professionals became more adept at accurately diagnosing EDS. The prevalence of the six types differs dramatically. The most commonly occurring type is the hypermobility type, followed by the classical type. The other types of EDS are very rare. For example, fewer than 10 infants and children with the dermatosparaxis type have been described worldwide.
There is no known cure for Ehlers Danlos Syndrome. The treatment is supportive. Close monitoring of the cardiovascular system, physical therapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing) may be helpful. One should avoid activities that cause the joint to lock or overextend.
A physician may prescribe bracing to stabilize joints. Surgical repair of joints may be necessary at some time. 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. To decrease bruising and improve wound healing, some patients have responded to ascorbic acid (vitamin C) by taking 1 to 4 grams daily.
In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counseling. Children with EDS should be provided with information about the disorder, so they can understand why contact sports and other physically stressful activities should be avoided. Children should be taught early on that demonstrating the unusual positions they can maintain due to loose joints should not be done as this may cause early degeneration of the joints. Family members, teachers and friends should be provided with information about EDS so they can accept and assist the child as necessary.
The outlook for individuals with EDS depends on the type of EDS with which they have been diagnosed. Symptoms vary in severity, even within one sub-type, and the frequency of complications changes on an individual basis. Some individuals have negligible symptoms while others are severely restricted in their daily life. Extreme joint instability, pain, and spinal deformities may limit a person’s mobility. Most individuals will have a normal lifespan. However, those with blood vessel involvement have an increased risk of fatal complications.
EDS is a lifelong condition. Affected individuals may face social obstacles related to their disease on a daily basis. Some people with EDS have reported living with fears of significant and painful ruptures, becoming pregnant, their condition worsening, becoming unemployed due to physical and emotional burdens, and social stigmatization in general.
- ^ James, William D.; Berger, Timothy G.; Elston, Dirk M. (2006). Andrews’ diseases of the skin: clinical dermatology (10th ed.). Philadelphia: Saunders. p. 512. ISBN 978-0-7216-2921-6.
- ^ http://arthritisinsight.com/medical/surgery/eds.html
- ^ “Uncovered: How U.S. Health System Can Fail Even the Insured — A Woman Endures 16-Month Odyssey To Get a Diagnosis”, John Carreyrou, Wall Street Journal, November 16, 2007
- ^ Lawrence EJ (2005). “The clinical presentation of Ehlers-Danlos syndrome”. Adv Neonatal Care 5 (6): 301–14. doi:10.1016/j.adnc.2005.09.006. PMID 16338669.
- ^ 
- ^ Gedalia, A; Press, J; Klein, M; Buskila, D (1993). “Joint hypermobility and fibromyalgia in schoolchildren.”. Annals of the Rheumatic Diseases 52 (7): 494. doi:10.1136/ard.52.7.494. PMID 8346976.
- ^ Milhorat TH, Bolognese PA, Nishikawa M, McDonnell NB, Francomano CA (December 2007). “Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue”. Journal of Neurosurgery. Spine 7 (6): 601–9. doi:10.3171/SPI-07/12/601. PMID 18074684.
- ^ 
- ^ 
- ^ Medical Hear-It
- ^ 
- ^ 
- ^ The Press Enterprise, Redlands mother stung by untrue suspicions presses for accountability in child abuse inquiries, 2008-04-03
- ^ Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ (1998). “Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)”. Am J Med Genet 77 (1): 31–7. doi:10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O. PMID 9557891.
- ^ Lind J, Wallenburg HC (April 2002). “Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population”. Acta Obstetricia Et Gynecologica Scandinavica 81 (4): 293–300. PMID 11952457