Megalencephaly-capillary malformation-polymicrogyria syndrome
MONDO:0011240A 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.
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Disease
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Nervous system disorder
(231)
Hereditary disease
(176)
PIK3CA-related overgrowth spectrum
(15)
Human disease
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Developmental defect during embryogenesis
(8)
Hereditary neurological disease
(6)
Central nervous system malformation
(5)
Disease of genetic or genomic mechanism
(2)
Overgrowth syndrome
(1)