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Arrhinia

Disease definition

Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.

ORPHA:1134

  • Synonym(s):
    • Nose agenesis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q30.1
  • OMIM: -
  • UMLS: C0265740
  • MeSH: C537438
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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