Megalencephaly‑capillary malformation‑polymicrogyria syndrome


Engelsk navn: Megalencephaly-capillary malformation-polymicrogyria syndrome
Engelske synonym: MCAP,MCM,MCMTC,Macrocephaly-capillary malformation syndrome,Macrocephaly-cutis marmorata telangiectatica congenita syndrome,Megalencephaly-capillary malformation syndrome,Megalencephaly-cutis marmorata telangiectatica congenita syndrome


Definisjon

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.

Fra Orphanet

ORPHA: 60040
Klassifiseringsnivå: Disorder
ICD-10: Q87.3

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Mer informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
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