Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Definition
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.
Also known as MINDS syndrome, Smith-Kingsmore Syndrome — per MONDO