Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Definition
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 — per MONDO