arrhinia
Findings
No curated finding names arrhinia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0015237), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent nasal septal cartilageHPOHP:0005273
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the nasal septumHPOHP:0009935
- Frequent (30% to 79% of cases)
- Eyelid colobomaHPOHP:0000625
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplasia of the nasal boneHPOHP:0004646
- Frequent (30% to 79% of cases)
- MicrophthalmiaHPOHP:0000568
- Frequent (30% to 79% of cases)
- Microtia
Where it sits
- A kind of
Other names
2 names
Resolves to: arrhinia
- Also called
- isolated nose agenesisNose agenesis