Familial nasal acilia

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Overview

Familial nasal acilia is an extremely rare inherited condition in which the cells lining the inside of the nose lack cilia — the tiny hair-like structures that normally wave back and forth to move mucus and trapped particles out of the nasal passages. Without these cilia, the nose cannot properly clear mucus, dust, bacteria, and other debris. This leads to chronic nasal congestion, frequent sinus infections, and a persistent runny or stuffy nose that does not respond well to standard treatments. Because the condition is present from birth, affected individuals often experience nasal symptoms from a very early age. The disease primarily affects the nose, distinguishing it from primary ciliary dyskinesia (PCD), which involves cilia throughout the entire respiratory tract and other organs. In familial nasal acilia, the ciliary defect appears to be limited to the nasal mucosa, so the lungs and other organs are generally not affected in the same way as in PCD. There is currently no cure for familial nasal acilia. Treatment focuses on managing symptoms, preventing infections, and keeping the nasal passages as clear as possible. This may include regular nasal saline irrigation, mucus-thinning agents, and antibiotics when infections occur. Because the condition is so rare, there is limited research on long-term outcomes, and management is largely guided by experience with related ciliary disorders.

Key symptoms:

Chronic nasal congestionFrequent sinus infectionsPersistent runny noseThick nasal mucus that is hard to clearDifficulty breathing through the noseReduced or absent sense of smellPost-nasal dripRecurrent upper respiratory infectionsNasal crusting

Clinical phenotype terms (8)— hover any for plain English
Chronic rhinitisHP:0002257Abnormal respiratory motile cilium morphologyHP:0005938Chronic sinusitisHP:0011109AtelectasisHP:0100750
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial nasal acilia.

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No actively recruiting trials found for Familial nasal acilia at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Familial nasal acilia community →

No specialists are currently listed for Familial nasal acilia.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial nasal acilia.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Familial nasal acilia

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How can we confirm that the ciliary problem is limited to the nose and does not affect the lungs?,What daily nasal care routine do you recommend for my child?,When should I bring my child in for a sinus infection versus treating at home?,Are there any genetic tests that could help identify the exact cause of this condition?,Should other family members be tested or evaluated?,What are the long-term complications I should watch for?,Are there any clinical trials or research studies we could participate in?

Common questions about Familial nasal acilia

What is Familial nasal acilia?

Familial nasal acilia is an extremely rare inherited condition in which the cells lining the inside of the nose lack cilia — the tiny hair-like structures that normally wave back and forth to move mucus and trapped particles out of the nasal passages. Without these cilia, the nose cannot properly clear mucus, dust, bacteria, and other debris. This leads to chronic nasal congestion, frequent sinus infections, and a persistent runny or stuffy nose that does not respond well to standard treatments. Because the condition is present from birth, affected individuals often experience nasal symptoms

How is Familial nasal acilia inherited?

Familial nasal acilia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Familial nasal acilia typically begin?

Typical onset of Familial nasal acilia is neonatal. Age of onset can vary across affected individuals.