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Capillary malformation-arteriovenous malformation syndrome
This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Not applicable
- Age of onset: Infancy, Neonatal
- ICD-10: Q27.3
- OMIM: 608354
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
So far, it has been described in multiple members of six families.
The CMs are atypical: they are small, round-to-oval in shape and pink-red in colour. AVMs may be cutaneous, subcutaneous, intramuscular, intraosseous or cerebral. The association of CM with arteriovenous fistulas or Parkes-Weber syndrome (see this term) was reported in some cases.
The syndrome is caused by heterozygous mutations in the RASA1 gene (5q13.3), encoding RAS p21 protein activator 1.
- Clinical genetics review
- English (2016)