Disease & disorder

arrhinia

MONDO:0015237

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.

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Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

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Background context

Arrhinia

Arrhinia (alternatively spelled "arhinia") is the congenital partial or complete absence of the nose at birth. It is an extremely rare condition, with few reported cases in the history of modern medicine. It is generally classified as a craniofacial abnormality. The cause of arrhinia is not known. One study of the literature found that all cases had presented a normal antenatal history.

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.