Ehlers-Danlos syndrome dermatosparaxis type

info · Genetic

An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35.

Signs and symptoms

Epicanthus
Delayed closure of the anterior fontanelle
Gingival hyperkeratosis
Dermal translucency
Fragile skin
Wide anterior fontanel
Bruising susceptibility
Postnatal growth retardation
Soft, doughy skin
Hyperextensible skin