Orphanet: Macrocefalie capillaire malformatie syndroom

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Megalencephaly-capillary malformation-polymicrogyria syndrome

Disease definition

A rare developmental defect during embryogenesis that is characterized by growth dysregulation with overgrowth of the brain and multiple somatic tissues, with capillary skin malformations, megalencephaly (MEG) or hemimegalencephaly (HMEG), cortical brain abnormalities (in particular polymicrogyria), typical facial dysmorphisms, abnormalities of somatic growth with asymmetry of the body and brain, developmental delay and digital anomalies.


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: Neonatal, Antenatal
  • ICD-10: Q87.3
  • OMIM: 602501
  • UMLS: C1865285
  • MeSH: -
  • GARD: 6950
  • MedDRA: -

Detailed information


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