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Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

What is Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome?

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.

Other condition names

  • Braddock-Jones-Superneau syndrome

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.