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Isolated oxycephaly

Disease definition

Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.

ORPHA:63440

  • Synonym(s):
    • Acrocephaly
    • Hypsicephaly
    • Hypsocephaly
    • Pyrgocephaly
    • Turricephaly
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q75.0
  • OMIM: 123100  616602
  • UMLS: C0030044
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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