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Marshall-Smith syndrome

Disease definition

A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae.


Classification level: Disorder
  • Synonym(s):
    • Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.3
  • ICD-11: LD2C
  • OMIM: 602535
  • UMLS: C0265211
  • MeSH: C536026
  • GARD: 6985
  • MedDRA: -

Detailed information

General public

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