vascular type Ehlers-Danlos syndrome (DOID:14756)
Alliance: disease page
Synonyms: autosomal dominant type IV Ehlers-Danlos syndrome
Alt IDs: OMIM:130050, NCI:C125699, ORDO:286
Definition: An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.