Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Capillary malformation - arteriovenous malformation

Orpha number ORPHA137667
Synonym(s) CM-AVM
Prevalence Unknown
Inheritance Autosomal dominant
Not applicable
Age of onset Neonatal
Infancy
ICD-10
  • Q27.3
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas. 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.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Clinical genetics review
  • EN (2013)
Get Acrobat Reader
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.