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Up to: Hereditary neurological disease · Congenital nervous system disorder · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability · Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others.
This condition has no sub-types.