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Start free with EleplanEPHB4-related capillary malformation-arteriovenous malformation
ORPHA:693912Malformation syndrome
Also called CM-AVM2
What it is
A rare capillary malformation-arteriovenous malformation characterized by multifocal pink-to-red cutaneous capillary malformations, mainly localized on the extremities, trunk, head and neck. Bier spots, epistaxis, and telangiectasias on the lips, perioral region and on the upper thorax are frequently observed. Arteriovenous malformations and fistulas involving muscle, bone, the spine and the brain 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
- 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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