Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

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Synonyms: MINDS syndrome | Smith-Kingsmore 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome?

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