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Ehlers-Danlos Syndrome

International Birth Defects Information Systems



Ehlers-Danlos Syndrome


Topics: | Ehlers-Danlos | EDS | EDS I | EDS II | EDS III | EDS IV | Dermatosporaxis | ... |

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Notes per Visitors  
Ehlers-Danlos Syndrome is a connective tissue disorder ... collagen synthesis is affected ... classical presentation involves loose skin and joint hypermobility (types I/II and III respectively) ... vascular form ... involves mutations in type 3 Collagen synthesis ... Kyphoscoliosis ... arthrochalasis, and dermatosparaxis subtypes ... complete the modern classification ... Mutations in ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, PLOD1, and TNXB genes have been implicated in the etiology of the disease ... unifying theme is that they all (directly or indirectly) adversely affect collagen synthesis ... presentation for classical subtypes of the disease includes loose and fragile skin ... easy bruising, hernias, cervical incompetence, and prematurity. The Hypermobility Type (Ehlers-Danlos Type III) has joint ... flexibility and degenerative joint disease ... Vascular (Type IV) ... presents with aged, translucent skin, increased probability ... arterial, uterine ind intestinal rupture

EHLERS-DANLOS SYNDROME
Victor A. McKusick, OMIM, John Hopkins University, April 25, 2007
Visitor Comments [for Professionals mainly]
Clinical Synopsis
Autosomal dominant ... Short stature ... Narrow maxilla ... Hypermobile; Lop ears ... Myopia; Blue sclerae; Ectopia lentis; Epicanthal folds ... Small, irregularly placed teeth ... Mitral valve prolapse; Aortic root dilatation ... Inguinal hernia; Umbilical hernia ... Spontaneous bowel rupture; Bowel diverticula ... Osteoarthritis ... Joint hypermobility ... Pes planus ... Fragile skin; Easy bruisability; Cigarette-paper scars; Wide, thin scars; Velvety skin; Poor wound healing Molluscoid pseudotumors; Spheroids ... Hypotonia in infancy ... Premature birth following premature rupture of fetal membranes ... Caused by mutations in the collagen V, alpha-1 gene ... Caused by mutations in the collagen V, alpha-2 gene ...

EHLERS-DANLOS SYNDROME, TYPE II; EDS2
Victor A. McKusick, OMIM, John Hopkins University, March 15, 2007
Visitor Comments [for Professionals mainly]
EDS II; EHLERS DANLOS SYMDROME, MITIS TYPE
Gene Map Locus: 9q34.2-q34.3
... of EDS is caused by mutations in the COL5A1 (120215) and COL5A2 (120190) genes. Since other mutations in these genes cause type I Ehlers-Danlos syndrome, the 2 syndromes are allelic. According to the original Beighton classification (Beighton, 1970), EDS I (130000) is the severe form of classic Ehlers-Danlos syndrome and EDS II is the mild form ...

EHLERS-DANLOS SYNDROME, TYPE III
Victor A. McKusick, OMIM, John Hopkins University, March 15, 2007
Visitor Comments [for Professionals mainly]
EDS3; EDS III; BENIGN HYPERMOBILITY SYNDROME
Gene Map Locus: 2q31
According to the original Beighton classification (Beighton, 1970), EDS III is the benign hypermobility syndrome. Marked joint hyperextensibility without skeletal deformity dominates the clinical picture. Skin manifestations are relatively inconspicuous. Differentiation from familial joint laxity (147900) is often uncertain ...

EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; EDS4
Victor A. McKusick, OMIM, John Hopkins University, March 15, 2007
Visitor Comments [for Professionals mainly]
Clinical Synopsis
Short stature ... Pinched thin nose; Thin lips ... Lobeless ears ... Keratoconus ... Periodontal disease; Early loss of teeth ... Mitral valve prolapse ... Intracranial aneurysm ... Spontaneous pneumothorax; Hemoptysis ... Inguinal hernia ... Spontaneous rupture of bowel ... Uterine rupture associated with pregnancy; Uterine prolapse ... Bladder prolapse ... Hypermobility of distal; interphalangeal joints; Acroosteolysis ... Club foot; Acroosteolysis ... Fragile skin; Easy bruisability; Cigarette-paper scars; Atrophic skin over ears; Prominent venous markings; Absent-mild skin hyperextensibility; Skin changes worse in areas of lower skin temperature; Alopecia of scalp; Molluscoid pseudotumors; Acrogeria ... Type III collagen defect ... Premature delivery because of cervical insufficiency or membrane fragility; Death usually occurs before 5th decade ... Caused by mutations in the collagen III, alpha-1 gene (COL3A1, {120180.0001}) ...

Ehlers-Danlos Syndrome, Vascular Type
Melanie G Pepin, MS, CGC, et al, GeneReviews, June 7, 2006
Ehlers Danlos Syndrome Type IV (EDS Type IV), Ehlers Danlos Syndrome, Arterial-ecchymotic Type, Sack-Barabas Syndrome, Acrogeria
Melanie Pepin, MS; Peter H Byers, MD ... GENE CLINICS
Visitor Comments [for Professionals mainly]
26 August 1999 ... Ehlers-Danlos syndrome, vascular type (also known as EDS IV) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance; and arterial, intestinal and/or uterine fragility ... significant medical problem by age 20 years and more than 80% by age 40 years. The median age of death is 48 years ... The diagnosis of EDS, vascular type ... demonstrate abnormal electrophoretic mobility and abnormal efficiency of secretion of type III procollagen in cultured dermal fibroblasts ... identify mutations in the COL3A1 gene (chromosomal locus 2q31) is available for genetic counseling purposes ... Major diagnostic criteria ... Thin, translucent skin (especially chest/abdomen); Arterial/intestinal/uterine fragility or rupture; easy bruising; Characteristic facial appearance (thin lips and philtrum, small chin, thin nose, large eyes) ... Minor diagnostic criteria ... Acrogeria (an aged appearance to the extremities, particularly the hands); Hypermobility of small joints; Tendon/muscle rupture; Early-onset varicose veins; Arteriovenous carotid-cavernous sinus fistula; pneumothorax/pneumohemothorax; Chronic joint subluxations/dislocations; Congenital dislocation of the hips; Talipes equinovarus (clubfoot); Gingival recession; A family history consistent with autosomal dominant inheritance ...

EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
Victor A. McKusick, OMIM, John Hopkins University, March 15, 2007
Visitor Comments [for Professionals mainly]
EDS IV; EHLERS-DANLOS SYNDROME, ARTERIAL TYPE; EHLERS-DANLOS SYNDROME, ECCHYMOTIC TYPE; EHLERS-DANLOS SYNDROME, SACK-BARABAS TYPE; EHLERS-DANLOS SYNDROME, VASCULAR TYPE
Gene Map Locus: 2q31
Ehlers-Danlos syndrome type IV is an autosomal dominant disorder characterized by the joint and dermal manifestations as in other forms of the syndrome but also by proneness to spontaneous rupture of bowel and large arteries ... Many varieties of the Ehlers-Danlos syndrome can be identified. The malignant form of EDS (type IV) owes its bad reputation to a proneness to spontaneous rupture of bowel or large arteries. Paradoxically, other manifestations are less dramatic than in some other forms of EDS. For example, joint hypermobility may be confined largely to the fingers and whereas the skin is strikingly thin and translucent, it is only mildly hyperextensible. Bruisability, however, is very striking; indeed, 'ecchymotic type' is a synonym for type IV ... Pope et al. (1980) reported an apparent dominant form of EDS IV (in father and daughter). The acrogeric appearance of the skin of the hands was particularly striking in the 37-year-old father ... In a group of 14 families, Rudd et al. (1983) identified 20 women with EDS IV. The diagnosis was confirmed in at least 1 member of each family by demonstration of reduced production of type III collagen by dermal fibroblasts in vitro. Of the 20 women, 10 had been pregnant and 5 had died of pregnancy-related complications. The overall risk of death in each pregnancy was 25% in this series. Pregnancy-related complications included rupture of bowel, aorta, vena cava or uterus, vaginal laceration, and postpartum uterine hemorrhage ... Byard et al. (1990) ascribed the 'sudden infant death syndrome' ... microangiopathy of skin capillaries ...

EHLERS-DANLOS SYNDROME, TYPE V
Victor A. McKusick, OMIM, John Hopkins University, June 12, 2007
Visitor Comments [for Professionals mainly]
EDS5; EDS V
2 families in which X-linked inheritance is probable ... hyperextensible skin and bruising tendency. Fragility of skin was unimpressive ... 'floppy mitral valve' was conspicuous and led to death in one ...

EHLERS-DANLOS SYNDROME, TYPE VI
Victor A. McKusick, OMIM, John Hopkins University, April 25, 2007
Visitor Comments [for Professionals mainly]
Clinical Synopsis
Loose skin; Fragile skin; Easy bruisability; Cigarette-paper scars; Hyperelastica cutis; Stretchable skin ... Retinal detachment; Microcornea; Myopia ... Mitral valve prolapse; Aneurysms, multiple arterial; Carotid-cavernous fistula; Dissecting aortic aneurysm; Scoliosis; Kyphoscoliosis ... Distal interphalangeal joint hypermobility; Joint hyperflexibility; Loosejointedness; Recurrent joint dislocations ... Pes planus ... Colon rupture; Diverticulosis ... Inguinal hernia ... Premature rupture of fetal membranes; Neonatal floppiness ... Hydroxylysine-deficient collagen; Proto-collagen lysyl hydroxylase deficiency ... Autosomal recessive; genetic heterogeneity likely ...

EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT
Victor A. McKusick, OMIM, John Hopkins University, March 15, 2007
Visitor Comments [for Professionals mainly]
EDS VIIA; ARTHROCHALASIS MULTIPLEX CONGENITA; PROCOLLAGEN TYPE EDS VII, MUTANT; EDS VIIA1, INCLUDED; EDS VIIA2, INCLUDED; EDS VIIB, INCLUDED;
Gene Map Locus: 17q21.31-q22, 7q22.1
the clinical picture in this patient was that of arthrochalasis multiplex congenita. Short stature, smallish mandible, and considerable hyperextensibility and bruisability of the skin are other features ... Two forms of autosomal dominant EDS VII have been described: one due to substitution in the alpha-1 chain of procollagen I (we might call it EDS VII-A1) and a second represented by the original case of Lichtenstein et al. (1973) with substitution in the alpha-2 chain of procollagen I (EDS VII-A2) ...

EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE
Victor A. McKusick, OMIM, John Hopkins University, March 15, 2007
Visitor Comments [for Professionals mainly]
DERMATOSPARAXIS; EDS VIIC; EDS VIIB, FORMERLY;
Gene Map Locus: 5q23
Dermatosparaxis (meaning 'tearing of skin'), a heritable disorder of connective tissue resulting from deficiency of the enzyme that cleaves the 'registration peptide' off the N-terminal end of collagen after it has been secreted from the fibroblasts, has been demonstrated in cattle (Lapiere et al., 1971), sheep (Fjolstad and Helle, 1974), and the Himalayan cat (Counts et al., 1980; Holbrook et al., 1980) ... Smith et al. (1992) identified 2 children with soft, lax, and fragile skin which on transmission electron microscopy was found to contain twisted, ribbon-like collagen fibrils characteristic of dermatosparaxis ... Wertelecki et al. (1992) provided clinical details of the 2 patients of Smith et al. (1992). They emphasized the large fontanels and wide sagittal and metopic sutures, blue sclerae, micrognathia, and umbilical hernia. Electron microscopic examination of the skin showed collagen sheets rather than fibrils, and characteristic distortions resembling hieroglyphics ... dermatosparaxis in a 15-year-old girl and noted that 3 previously reported patients with this disorder died before the age of 3 years. Easy bruising, severe skin laxity and fragility, extensive scar formation, and joint laxity were the main manifestations in their patient ...

EHLERS-DANLOS SYNDROME, TYPE VIII
Victor A. McKusick, OMIM, John Hopkins University, April 25, 2007
Visitor Comments [for Professionals mainly]
EDS8; EDS VIII; EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE;
In 1 family (A. K., 1136340) I have observed skin lesions resembling necrobiosis lipoidica diabeticorum in association with periodontal disease leading to early loss of teeth. The skin consisted of symmetrical patches on the front of the shins, about 5 inches long, covered by parchment skin and discolored by blood pigments. The appearance resembled that in the Ehlers-Danlos syndrome. The knees showed small 'cigarette-paper scars.' Loose-jointedness and general bruisability and cutaneous fragility were not present ... Dental problems included extensive periodontal destruction, i.e., alveolar bone loss around the teeth resulting in premature loss of teeth, as well as propensity for calculus formation ...

EHLERS-DANLOS SYNDROME WITH PLATELET DYSFUNCTION FROM FIBRONECTIN ABNORMALITY
Victor A. McKusick, OMIM, John Hopkins University, December 9, 1998
Visitor Comments [for Professionals mainly]
FN ABNORMALITY; EHLERS-DANLOS SYNDROME, TYPE X; EDS10; EDS X; EHLERS-DANLOS SYNDROME, DYSFIBRONECTINEMIC TYPE
Arneson et al. (1980) observed mild EDS in 4 of 6 sibs, together with a defect in platelet aggregation in response to collagen. The defect was partially corrected by normal plasma or cryoprecipitate ...

EHLERS DANLOS SYNDROME, AUTOSOMAL RECESSIVE
Victor A. McKusick, OMIM, John Hopkins University, October 13, 2006
Visitor Comments [for Professionals mainly]
Two of 7 sibs in a consanguineous Chinese family were affected. Other forms of recessive EDS were excluded on the basis of clinical features and chemical study. The proband was a 25-year-old man with hyperextensible joints, bilateral inguinal hernias, hyperelastic skin, chronically dislocated left hip, and 'lop' ears. The facies of the two differed from that of their unaffected sib. Clearly the EDS category has not been fully classified and characterized ...

EHLERS-DANLOS SYNDROME, PROGEROID FORM
Victor A. McKusick, OMIM, John Hopkins University, April 25, 2007
Visitor Comments [for Professionals mainly]
Clinical Synopsis
Progeroid facies; Wrinkled facies; Scanty eyebrows and eyelashes; Telecanthus ... Delayed mental development ... Short stature ... Osteopenia; Bone dysplasia ... Defective deciduous teeth; Periodontosis ... Multiple nevi; Loose but elastic skin; Delayed wound healing; Thin, atrophic skin scars ... Scanty scalp hair; Curly and fine hair ... Hypotonic muscles ... Hypermobile joints ... Pectus excavatum ... Cryptorchidism ... Lacking of progeric features such as diminished subcutaneous fat, prominent scalp veins, generalized ...

EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED
Victor A. McKusick, OMIM, John Hopkins University, June 29, 2004
Visitor Comments [for Professionals mainly]
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 ...

WHAT IS EHLERS-DANLOS SYNDROME?
The Canadian Ehlers-Danlos Association, 2003
Visitor Comments [Support Group]
GENETICS AND HEREDITY ... How is EDS Inherited? ... WHAT ARE THE SYMPTOMS OF EDS? ... HOW IS EDS DIAGNOSED? ... TREATMENTS AND PRECAUTIONS ... Pregnancy; Some forms of EDS (especially Vascular Type EDS) can cause serious complications such as bleeding or tearing during childbirth or premature births. Any woman who has Ehlers-Danlos syndrome should discuss pregnancy with a doctor who is familiar with EDS and its complications ... Joint Protection ... Eye Treatments ... Protection from Sun Exposure ... Living with Ehlers-Danlos Syndrome ... Discussing your problems and learning new ways to manage daily activities will help you cope more effectively ... Many people gain support by sharing their concerns ...

Types of Ehlers-Danlos Syndrome
Darlene A Clark R.N., M.S.N. et al, Canadian Ehlers-Danlos Association, 2003
Visitor Comments [Support Group]
Ehlers- Danlos Syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility ... Collagen is a protein that acts like glue in the body adding strength and elasticity to connective tissue. There are six major types of EDS ... Classical Type; Marked skin hyperextensibility (stretchy) with widened atrophic scars ... Hypermobile Type; The skin involvement (hyperextensible and/or smooth, velvety skin) as well as bruising tendencies ... Vascular Type; Thin translucent skin reveals the subcutaneous venous pattern ... Joint hypermobility is usually limited to the digits ... Kyphoscoliosis Type; Generalized joint laxity and severe muscle hypotonia ... The phenotype is most often severe, frequently resulting in the loss of ambulation ... Dermatosparaxis Type ... severe skin fragility and substantial bruising ... Other Types of EDS ... EDS type V (X-linked) has been described in a single family ... EDS type VIII is similar to the Classical Type except that in addition it ... type IX was previously redefined as "occipital horn syndrome" ... has been described in one family only ... XI termed "familial joint hypermobility syndrome" ...

Ehlers-Danlos Syndrome, Kyphoscoliotic Form
Richard J Wenstrup, MD et al, Gene Reviews, July 12, 2005
Ehlers-Danlos Syndrome Type VI (EDS Type VI); Ehlers-Danlos Syndrome, Ocular-Scoliotic; Lysyl-Hydroxylase Deficiency
24 January 2000 ... generalized connective tissue disorder characterized by kyphoscoliosis, joint laxity, muscle hypotonia, and, in some patients, ocular problems. Intelligence is normal; lifespan may be normal, but affected individuals are at risk for rupture of medium-sized arteries and respiratory compromise if kyphoscoliosis is severe ... caused by deficient activity of the enzyme procollagen lysine hydroxylase ... Major clinical features: Friable, hyperextensible skin, thin scars, easy bruising; Generalized joint laxity; Severe muscle hypotonia at birth; Progressive scoliosis; Scleral fragility and rupture of the globe ... Minor clinical features: Widened, atrophic scars; Marfanoid habitus; Rupture of medium-sized arteries; Mild to moderate delay of attainment of gross motor milestones ...

Ehlers-Danlos Foundation Of New Zealand
Jen Longshaw, The Ehlers Danlos Foundation of New Zealand , May 2007
Provide emotional support for sufferers of the Ehlers-Danlos Syndrome and HMS, their spouses and family members ...

EHLERS-DANLOS SYNDROME - Diagnosis Explained in Lay
Maggie Buckley, Canadian Ehlers-Danlos Association, 2003
The skin biopsy will confirm or rule out the Vascular type, but it is not the sole (or gold standard) method of diagnosing this type ... First of all, keep in mind that EDS is a "Syndrome" or a group of disorders that share a core group of symptoms. The core group of symptoms of EDS include joint hypermobility, skin hyperextensibility, vessel fragility ... symptoms ... with a loose joints ... The different colors represent the 6 different types of EDS and one "non-EDS" category ... Each EDS affected individual needs to have an individualized treatment program ... As humans we all seek to classify and categorize everything in our lives in order to understand it. Typing of EDS is a personal choice, it is not mandatory ...

Diagnosing Ehlers-Danlos Syndrome
Canadian Ehlers-Danlos Association, 2003
Ehlers-Danlos Syndrome affects all races and ethnic groups. The diagnosis of EDS is made upon clinical grounds first, skin hyperelasticity, easy bruising, dystrophic scarring, and joint hypermobility are the cardinal symptoms, which may be present in different combinations and with variable severity ... For Classical, Vascular, Arthrochalasia, Dermatosparaxis and Kyphoscoliosis types of EDS there are laboratory tests which may confirm or exclude the diagnosis ... Classical and Hypermobility Types ... These two types of Ehlers-Danlos Syndrome comprise 90% of all cases ... Hypermobility ... Joint hypermobility is assessed by means of a method adapted from one first described by Carter and Wilkinson (1967) ... Passive dorsiflexion of each little finger beyond 90 degrees with the forearm flat on a table; Passive opposition of each thumb to the flexor aspect of the forearm; Hyperextension of each knee beyond 10 degrees; Forward flexion of the trunk so that the palms of the hands rest easily on the floor ... The skin has a soft velvety consistency ... The degree of skin extensibility varies from patient to patient ... A score of one was given for each of 5 bony points that bore more than 2 scars which were over 2 centimeters in length ... Bruising ... There are approximately 6 different types of EDS which have been distinguished ...

Opthalmologic Implications of Ehlers-Danlos Syndrome
Summarizes a presentation by Dr. Stephanie Kirschbaum, optometrist, Canadian Ehlers-Danlos Association, 2003
EDS-Type VI. ROLE OF COLLAGEN IN THE EYE The human eye is primarily made up of connective tissue. The sclera is all collagen and represents 80% of the eye ... The presence and nature of any pain, discharge, redness or any changes in visual acuity requires an evaluation ... OCULAR/SCOLIOTIC EDS TYPE VI ... progressive loss of pigment tissue. Improper drainage of the fluid of the eye leads to increased intraocular pressure EPICANTHAL FOLDS ... The skin of the eyelid closest to the nasal porting dents in or 'folds' ... HIGH MYOPIA ... The eye is too big or the cornea is too steep ... BLUE SCLERA ... STRABISMUS ... PHOTOPHOBIA ... LINS SUBLUXATION ... LENS SUBLUXATION ... RETINAL DETACHMENTS ... ANGIOID STREAKS ... KERATOCONUS ... POSTERIOR STAPHELOMA ... GLAUCOMA ... CATARACTS ... CAROTID-CAVERNOUS SINUS FISTULAS ... MACULAR DEGENERATION ...

Ehlers-Danlos National Foundation
2007
Provide emotional support to patients and their families ...

Worldwide EDS Groups
Canadian ED Association , June 2003
Australia .. Belgium ... Denmark ... France ... Germany ... Ireland ... Netherlands ... New Zealand ... Norway ... Sweden ... United Kingdom ... United States of America ...

Ehlers-Danlos Syndrome UK Support Group
Name given to a group of heritable connective tissue disorders. EDS can affect the skin, ligaments, and internal organs ...

STV-Sang Thrombose Vaisseaux ... Le syndrome d'Ehlers-Danlos vasculaire
Dominique Paul Germain, Sang Thrombose Vaisseaux. Volume 11, Numéro 10, 767-75, Décembre 1999
[French]
Les syndromes d'Ehlers-Danlos sont un groupe de pathologies héréditaires du tissu conjonctif caractérisés par une hyperélasticité cutanée, une hyperlaxité articulaire et une fragilité des tissus conjonctifs ...

Ehlers Danlos, syndrome : sites francophones
CHU Hopitaux de Rouen May 25, 2007
[French]
Le mot clé Ehlers Danlos, syndrome [Ehlers-Danlos syndrome] est présent au sein de plusieurs arborescences du thesaurus MeSH ... association patients ... AFSED Association Française des Syndromes d'Ehlers-Danlos ...

Ehlers-Danlos Syndrome
I.B.I.S. Birth Defects
[Ukrainian]
A fact sheet for specialists in Ukrainian
Main diagnostic criteria ... Clinical features ... Type of inheritance ... Differential diagnosis ...

Ehlers-Danlos Syndrome
I.B.I.S. Birth Defects
[Ukrainian]
Another fact sheet for specialists in Ukrainian
Classification ... Diagnostic criteria ... Description of the syndrome types.

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Last Updated: 2008/06/12

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