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Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
rareCraniosynostosis, 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.
- Identifiers
- MONDO:0007401 OMIM:123155Orphanet:1538
- Part of
- Central nervous system malformationFamilial scaphocephaly syndromeHereditary neurological diseaseHydrocephalus
- Also known as
- Braddock Jones Superneau syndrome · Braddock-Jones-Superneau syndrome · Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus · HDCPH1 · hydrocephalus, autosomal dominant
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