Megalencephaly-capillary malformation-polymicrogyria syndrome

MONDO:0011240

A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

Also known as: MCAP, MCM, MCMTC, Megalencephaly-Capillary Malformation, macrocephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita syndrome, megalencephaly-capillary malformation syndrome, megalencephaly-capillary malformation-polymicrogyria syndrome

4 clinical trials for this condition and its sub-types, 3 tagged with Megalencephaly-capillary malformation-polymicrogyria syndrome itself.

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↑ Hereditary neurological disease (5772) ↑ PIK3CA-related overgrowth spectrum (19) ↑ Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes (10)

Including sub-types (4) Tagged with Megalencephaly-capillary malformation-polymicrogyria syndrome (3)

Trials to join now! 3 Completed 1

New registry sheds light on rare overgrowth diseases

Knowledge-focused Completed

This completed study created a French national registry for people with rare overgrowth syndromes caused by PIK3CA gene mutations. Researchers collected medical and genetic information from 28 patients to better understand these conditions and estimate how many people are affecte…

Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:07 UTC

Megalencephaly-capillary malformation-polymicrogyria syndrome

Where it sits in the disease tree

New registry sheds light on rare overgrowth diseases