vascular type Ehlers-Danlos syndrome

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 feature

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.

Signs and symptoms

• Dermal translucency
• Diffuse alveolar hemorrhage
• Hypermobility of interphalangeal joints
• Joint hypermobility
• Spontaneous pneumothorax
• Pneumothorax
• Inguinal hernia
• Finger joint hypermobility
• Anemia
• Metacarpophalangeal joint hyperextensibility

Also known as: Ehlers-Danlos syndrome type 4; Ehlers-Danlos syndrome type IV; autosomal dominant type IV Ehlers-Danlos syndrome