Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

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Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Synonyms: Berant syndrome | Capra-DeMarco syndrome | Familial scaphocephaly-radioulnar synostosis syndrome

A rare syndromic craniosynostosis 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Clinical Trials

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