Orphanet: Microcephaly capillary malformation syndrome

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Microcephaly-capillary malformation syndrome

Disease definition

Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.


Classification level: Disorder
  • Synonym(s):
    • MIC-CAP syndrome
    • MIC-CM syndrome
    • Microcephaly-cutaneous capillary malformation syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 614261
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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