x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) 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

Megalencephaly-capillary malformation-polymicrogyria syndrome

Disease definition

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

ORPHA:60040

  • Synonym(s):
    • MCAP
    • MCM
    • MCMTC
    • Macrocephaly-capillary malformation syndrome
    • Macrocephaly-cutis marmorata telangiectatica congenita syndrome
    • Megalencephaly-capillary malformation syndrome
    • Megalencephaly-cutis marmorata telangiectatica congenita syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.3
  • OMIM: 602501
  • UMLS: C1865285
  • MeSH: -
  • GARD: 6950
  • MedDRA: -

Detailed information

Professionals

Additional information

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.