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Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Disease definition

A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.

ORPHA:1538

Classification level: Disorder
  • Synonym(s):
    • Braddock-Jones-Superneau syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy
  • ICD-10: Q03.1
  • OMIM: 123155
  • UMLS: -
  • MeSH: -
  • GARD: 998
  • MedDRA: -

Additional information

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