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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.


Classification level: Disorder
  • 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


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