Orphanet: Craniorhiny
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Craniorhiny

Disease definition

A rare frontonasal dysplasia malformation syndrome characterized by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmertical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.

ORPHA:157832

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q30.8
  • OMIM: 123050
  • UMLS: C1852501
  • MeSH: -
  • GARD: -
  • MedDRA: -
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