Orphanet: Search a disease
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

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.

ORPHA:60040

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

Professionals

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.