Orphanet: Aase Smith syndrome

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Aase-Smith syndrome

Disease definition

A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.


Classification level: Disorder
  • Synonym(s):
    • Aase-Smith I syndrome
    • Hydrocephalus-cleft palate-joint contractures syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 147800
  • UMLS: C0220686
  • MeSH: C535332
  • GARD: 5642
  • MedDRA: 10063429
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