Disease Information for Ehlers-Danlos syndrome: Definition

  • A heterogeneous group of inherited COLLAGEN DISEASES; The most common manifestations of Ehlers-Danlos Syndrome are hyperextensible skin and joints, skin fragility and reduced wound healing capability; two major clinical types are kyphoscoliosis group (type 6)with hypermotility syndrome (type 3) and the vascular type (type 4 which can be lethal); others are more subtle and one includes achondroplasia and one periodontal disorder(type 8); much overlap with classic types; new classification is presented since now 10 types (classic 1,2;hypermobility 3;vascular 4;kyphoscoliosis 6;arthrochalasia 7b; misc 5,9,10,11)----------------------------------------

    Ehlers-Danlos syndrome; Chernogubov"s syndrome; Danlos’ syndrome; Meekeren-Ehlers-Danlos syndrome; Sack’s syndrome;

    Sack-Barabas syndrome; Van Meekeren’s syndrome I; Arthrocalasia multiplex congenita, cutis elastica syndrome, cutis hypereleastica, cutis hyperelastica dermatorrhexis, cutis laxa, dermatorrhexis with dermatochalasis and arthrochalasis, dystrophia mesodermalis, dystrophia mesodermalis congenita, cutis hyperelastic dermatorrhexis, elastic skin, fibrodysplasia elastica, fibrodysplasia elsatica generalisata, marfanoides Hypermobilitäts-Syndrom (German), mal de Meleda, rubber man, rubber skin.

    Each subtype of EDS is a distinct hereditary disorder that may affect individuals within certain families (kindreds). In other words, parents with one subtype of EDS will not have children with another EDS subtype. Depending upon the specific subtype present, Ehlers-Danlos syndrome is usually transmitted as an autosomal dominant or autosomal recessive trait.

    [NORD 2005]