Orphanet: Macrocephaly intellectual disability neurodevelopmental disorder small thorax syndrome
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Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Disease 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.

ORPHA:457485

Classification level: Disorder
  • Synonym(s):
    • MINDS syndrome
    • Smith-Kingsmore syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 616638
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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Further information on this disease

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