$Unique_ID{BRK03696} $Pretitle{} $Title{Ehlers-Danlos Syndrome} $Subject{Ehlers-Danlos Syndrome Arthrochalasia Multiplex Congenita Arthrochalasis-Dermatorrhexis-Dermatochalasis Cutis Hyperelastica Danlos Syndrome E-D Syndrome India Rubber Skin Meekeren-Ehlers-Danlos Syndrome Rubberman Syndrome Van Meekeren I Syndrome Type I Ehlers-Danlos Syndrome Gravis (severe) ED Type II Ehlers-Danlos Syndrome Mitis (mild) ED Type III Ehlers-Danlos Syndrome Benign Hypermobility ED Type IV Ehlers-Danlos Syndrome Ecchymotic ED Sack's ED, Sack-Barabas Syndrome Type V Ehlers-Danlos Syndrome X-linked ED Type VI Ehlers-Danlos Syndrome Hydroxylysine-Deficient Collagen ED Ocular ED Type VII Ehlers-Danlos Syndrome Procollagen-Persistent ED} $Volume{} $Log{} Copyright (C) 1986, 1987, 1990, 1991, 1992 National Organization for Rare Disorders, Inc. 240: Ehlers-Danlos Syndrome ** IMPORTANT ** It is possible the main title of the article (Ehlers-Danlos Syndrome) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Arthrochalasia Multiplex Congenita Arthrochalasis-Dermatorrhexis-Dermatochalasis Cutis Hyperelastica Danlos Syndrome E-D Syndrome India Rubber Skin Meekeren-Ehlers-Danlos Syndrome Rubberman Syndrome Van Meekeren I Syndrome DISORDER SUBDIVISIONS Type I Ehlers-Danlos Syndrome, also known as Gravis (severe) ED Type II Ehlers-Danlos Syndrome, also known as Mitis (mild) ED Type III Ehlers-Danlos Syndrome, also known as Benign Hypermobility ED Type IV Ehlers-Danlos Syndrome, also known as Ecchymotic ED, Sack's ED, and Sack-Barabas Syndrome Type V Ehlers-Danlos Syndrome, also known as X-linked ED Type VI Ehlers-Danlos Syndrome, also known as Hydroxylysine-Deficient Collagen ED and Ocular ED Type VII Ehlers-Danlos Syndrome, also known as Procollagen-Persistent ED General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Ehlers-Danlos syndrome is an inherited connective tissue disorder. It is characterized by the ability of patients to flex their bodies beyond the normal range (articular hypermobility), to abnormally stretch their skin (hyperelasticity of the skin), and widespread tissue fragility; i.e. skin, blood vessels and other tissues can rupture from even minor trauma. Symptoms Ehlers-Danlos syndrome can occur with different degrees of severity, ranging from mild to severe. Type I Ehlers-Danlos Syndrome, also known as Gravis (severe) ED. This type is characterized by skin which can be stretched several centimeters, but returns to its normal position upon release. Wide paperlike scars are often present over bony prominences, particularly on the elbows, knees and shins. The extent of joint hypermobility varies, but may be marked. Delayed sitting and walking may be present in babies, and unsteadiness with falling and fractures also may occur. Type II Ehlers-Danlos Syndrome, also known as Mitis (mild) ED. This is characterized by milder manifestations; joint hypermobility may be limited to hands and feet. Type III Ehlers-Danlos Syndrome, also known as Benign Hypermobility ED. This type of Ehlers-Danlos syndrome causes a marked degree of joint hypermobility. Affected individuals are able to flex their bodies well beyond the normal range. Type IV Ehlers-Danlos Syndrome, also known as Ecchymotic ED, Sack's ED, Sack-Barabas Syndrome). Minimal skin involvement and moderate or minimal joint involvement occurs in this type of Ehlers-Danlos syndrome. Marked bruisability and small hemorrhagic spots (ecchymoses) in the skin characterize this type of the disorder. A bleeding tendency may be present, but it is troublesome in only a minority of patients. Widening of the aorta near the heart, resulting from hemorrhage (dissecting aneurysm), and spontaneous rupture of large arteries occur rarely. Fleshy outgrowths (molluscoid pseudo-tumors) frequently form on top of scars or at pressure points. Type V Ehlers-Danlos Syndrome, also known as X-linked ED. This type of E-D syndrome is a hereditary form of the disorder which affects males. It is characterized by marked skin hyperextensibility, moderate joint hypermobility, and moderate fragility of the arteries and veins. Type VI Ehlers-Danlos Syndrome, also known as Hydroxylysine-deficient Collagen ED or Ocular ED. This type is an autosomal recessively inherited disorder. In this form of Ehlers-Danlos syndrome, the eyes are widely spaced and have a parrot-like or owl-like appearance with folds in the corner of the eyes next to the nose (epicanthal fold). Crossed eyes occur frequently. A blue membrane around the back of the eye (sclera) and perforation of the globe of the eye have been described in this rare autosomal recessive form of the disease. A small cornea and nearsightedness (myopia) with associated glaucoma have been described by some investigators; a conical cornea (keratoconus) and corneal thinning (megalocornea), which are abnormalities of the eye, have also been reported. Detachment of the eye's retina and corneal laceration may also occur following minor trauma. Displacement of the eye's lens (ectopia lentis), changes in the back portion of the eye (fundus), and streaks resembling blood vessels (angioid streaks) have also been described in some patients with this type of E-D. Biochemical diagnosis shows a low level of the amino acid hydroxylysine in the residue from collagen in patients with this type of E-D. Type VII Ehlers-Danlos Syndrome, also known as Procollagen-persistent ED. This type of E-D is characterized by excessive floppiness in infancy, moderate skin and vascular abnormalities and marked joint hypermobility. Dwarfism occurs occasionally. This form of E-D may be an autosomal recessive inherited disorder. Similar characteristics occur in several types of Ehlers-Danlos Syndrome. Minor trauma may cause wide gaping wounds but little bleeding. Wound closure may be difficult, since sutures tend to tear out of the fragile tissue. Surgical complications often arise because of deep tissue fragility. Fluid flowing out of membranes around joints (synovial effusion), sprains and dislocations occur frequently. The following traits may also be present: 1. Clubfoot (talipes equinovarus) -- 5% 2. Congenital dislocation of the hip -- 1% 3. Backward and lateral curvature of the spine (kyphoscoliosis) -- 25% 4. Chest deformity -- 20% 5. Flat feet are present in 90% of adult patients. Stomach and bowel (gastrointestinal) hernias and little sacs (diverticula) are common. Spontaneous hemorrhage and perforation of portions of the gastrointestinal tract are rare complications. Premature birth may occur because of tissue extensibility in an affected mother; the fetal membrane fragility and consequent early rupture of the water sack may occur if the fetus is affected. Maternal tissue fragility may complicate surgical incision of the perineum and vagina (episiotomy) or caesarian section. Bleeding may occur before, during and after childbirth. Causes Many forms of Ehlers-Danlos syndrome are autosomal dominant inherited disorders, but some forms of the disorder are inherited as either autosomal recessive or x-linked recessive traits. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Affected Population People of both sexes and all ages can be affected by Ehlers-Danlos syndrome. Some patients are diagnosed in childhood, and others during adulthood. Therapies: Standard Treatment of Ehlers-Danlos syndrome is symptomatic and supportive. Trauma, such as cuts and bruises should be especially avoided. Protective clothing and padding may be helpful. If surgery is necessary, the control of bleeding (hemostasis) must be meticulous. Wounds should be carefully sutured and tissue tension avoided. Obstetric supervision during pregnancy and delivery is mandatory. Genetic counseling should be provided for families with this disorder. Therapies: Investigational Researchers at the Washington State University Department of Veterinary Microbiology and Pathology have identified cats and dogs with certain types of Ehlers-Danlos Syndrome. Study of these animals is expected to lead to enhanced understanding of the biochemical defects that cause the syndrome and hopefully new treatments. Scientists are conducting genetic linkage studies to determine if Ehlers-Danlos X-linked and Menkes Syndrome are located on the same gene. These disorders tend to display similar problems with copper metabolism. Families with more than one affected male or carrier females may wish to participate in studies to determine the exact relationship of the genetic linkage in the two disorders. Interested persons may contact Dr. Yang at (510) 596-6916 or Dr. Packman at (415) 476-4337. This disease entry is based upon medical information available through September 1992. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Ehlers-Danlos Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Ehlers Danlos National Foundation P.O. Box 1212 Southgate, MI 48195 (313) 282-0180 Ehlers-Danlos Support Group 2 High Garth Richmond N Yorks, DL10 4DG England The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References MENDELIAN INHERITANCE IN MAN, 8th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 915-16. CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W.B. Saunders Co., 1988. Pp. 1178-80.