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Capillary malformation-arteriovenous malformation
This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
ORPHA:137667Classification level: Disorder
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.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008) Português (2008)
- Emergency guidelines
- Français (2018, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Français (2021) - PNDS
Disease review articles
- Clinical genetics review
- English (2019) - GeneReviews
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.