Capillary Malformation-Arteriovenous Malformation Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant inherited vascular disorder associated with loss of function mutations in the RASA1 or EPHB4 gene, encoding Ras GTPase-activating protein 1 or ephrin type-B receptor 4, respectively. It is characterized by cutaneous capillary malformations, often in association with arteriovenous malformations and arteriovenous fistulas, which may lead to abnormal bleeding, migraine headaches, seizures, and heart failure.

**Synonyms:** - CM-AVM - Capillary Malformation-Arteriovenous Malformation