Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
What is Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome?
Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.
Other condition names
- Berant syndrome
- Capra-DeMarco syndrome
- Familial scaphocephaly-radioulnar synostosis syndrome
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Neonatal
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