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arrhinia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arrhinia

MONDO:0015237

Also known as:Nose agenesisisolated nose agenesisNose agenesia

Overview

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.

Diagnosis

Biomarker and diagnostic research for arrhinia has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for arrhinia.

178 publications have been identified in PubMed for arrhinia. Research spans Review / Meta-Analysis (28%), Case Report / Case Series (21%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Research summaries	49	28%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1134

GARD

Genetic and Rare Diseases Info Center

GARD:364

Questions for Your Care Team

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arrhinia

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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