Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

MONDO:0007401

Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, 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.

Also known as: Braddock-Jones-Superneau syndrome, craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome, Braddock Jones Superneau syndrome, Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus, HDCPH1, hydrocephalus, autosomal dominant, sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus

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