Ehlers-Danlos syndrome classic type 2

info · Genetic

An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars.

Signs and symptoms

Joint hypermobility
Atrophic scars
Soft skin
Subcutaneous spheroids
Molluscoid pseudotumors
Recurrent joint dislocation
Epicanthus
Generalized joint hypermobility
Fragile skin
Cigarette-paper scars