Living with Aplasia of the nose
An extremely rare condition present from birth in which the nose is missing or underdeveloped.
Understanding Aplasia of the nose
It ranges from missing outer nose structures (hyporrhinia) to a missing outer nose, nasal airways, and smell nerves (arrhinia). It can affect one or both sides. It often causes trouble breathing and may need surgery. Related differences can include wide-set or small eyes, eyelid gaps, facial clefts, and small ears. It is seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble breathing (respiratory distress)
- Missing or underdeveloped nasal bone and septum
- Wide-set eyes (hypertelorism)
- Very small eyes (microphthalmia)
- Gaps in the eyelid (coloboma)
- Small ears (microtia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD doesn't describe a cause for this condition yet.
Also known as: absent nose; agenesis of nose; arhinia; arrhinia; congenital absence of nose; congenital absence of the nose
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Aplasia of the nose.
Explore research for Aplasia of the nose
Explore actively recruiting Aplasia of the nose studies with HealthSpark.
Find actively recruiting studies for Aplasia of the nose with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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