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Start free with EleplanRASA1-related capillary malformation-arteriovenous malformation
ORPHA:693907Malformation syndrome
Also called CM-AVM1
What it is
A rare capillary malformation-arteriovenous malformation characterized by single or multiple cutaneous lesions ranging from round to oval shape with pinkish to purplish-red or reddish-brown macules, randomly distributed over the body. Perilesional pale halo are usually detected on the skin. These lesions may occur with or without arteriovenous malformations/arteriovenous fistulas involving muscle, bone, spine and brain. Parkes Weber syndrome with segmental distribution may also be present. Most patients are asymptomatic except for the capillary malformations, the family history is often positive for capillary malformations.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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