Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

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

Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.

Other condition names

  • Braddock-Jones-Superneau syndrome

Inheritance type

Autosomal dominant

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
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