Last update 08 May 2025

Megalencephaly Cutis Marmorata Telangiectatica Congenita

Basic Info

Synonyms
M-CM (Macrocephaly-capillary malformation), MACROCEPHALY-CAPILLARY MALFORMATION, MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
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Introduction
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.

Analysis

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