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

Disease definition

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.

ORPHA:171839

Classification level: Disorder
  • Synonym(s):
    • Berant syndrome
    • Capra-DeMarco syndrome
    • Familial scaphocephaly-radioulnar synostosis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • ICD-11: LD2F.1Y
  • OMIM: -
  • UMLS: C3267187
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Français (2009) Nederlands (2009)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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