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Vascular Ehlers-Danlos syndrome

ORPHA:286· ICD-10 Q79.6

Definition

A rare genetic connective tissue disorder typically 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.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
Infancy, Neonatal