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Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

MONDO:0014716

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, Smith-Kingsmore syndrome, SKS, SMITH-Kingsmore syndrome, macrocephaly, seizures, intellectual disability, umbilical hernia, and Facial Dysmorphism, macrocephaly, seizures, mental retardation, umbilical hernia, and Facial Dysmorphism

6 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Human disease (14) Developmental defect during embryogenesis (7) Central nervous system malformation (5) Hereditary neurological disease (5) Disease of genetic or genomic mechanism (2) Congenital nervous system disorder (1) Multiple congenital anomalies/dysmorphic syndrome (1)
Trials to join now! 4 Completed 2
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