/macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Rare Disease

MONDO:0014716

Also Known As

MINDS syndromeSmith-Kingsmore SyndromeSmith-Kingsmore syndromeSKSSMITH-Kingsmore syndromemacrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphismmacrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism

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.