Autosomal recessive extra-oral halitosis

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ORPHA:562538OMIM:618148E88.8
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Overview

Autosomal recessive extra-oral halitosis is a rare inherited condition that causes persistent bad breath (halitosis) that does not come from the mouth, teeth, or gums. Unlike the common form of bad breath, which is usually caused by poor dental hygiene or gum disease, this condition originates from inside the body. It is caused by changes (mutations) in both copies of a specific gene that affect how the body processes certain sulfur-containing compounds. When these compounds are not broken down properly, they build up and are released through the lungs when a person breathes out, creating a strong, unpleasant odor. The main symptom is a noticeable, persistent bad smell on the breath that cannot be improved by brushing teeth, using mouthwash, or other standard oral hygiene measures. Because the smell comes from the bloodstream and lungs rather than the mouth, dental treatments do not help. This can have a significant impact on a person's social life, self-esteem, and mental well-being. Currently, there is no widely established cure for this condition. Management focuses on dietary changes to reduce the intake of foods that contribute to the buildup of odor-causing compounds, along with supportive care. Research into this condition is still in early stages, and awareness among doctors remains limited, which can make getting a correct diagnosis challenging.

Also known as:

Key symptoms:

Persistent bad breath that does not come from the mouth or teethBad breath that does not improve with brushing, flossing, or mouthwashUnpleasant sulfur-like or rotten egg smell on the breathNormal dental and oral health despite the odorSocial withdrawal or embarrassment due to the smellAnxiety or depression related to the chronic odorOdor that may worsen after eating certain foods high in sulfur

Inheritance

Autosomal recessive

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

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Autosomal recessive extra-oral halitosis.

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No actively recruiting trials found for Autosomal recessive extra-oral halitosis at this time.

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No specialists are currently listed for Autosomal recessive extra-oral halitosis.

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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 Autosomal recessive extra-oral halitosis.

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Community

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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.Which gene is causing my condition, and what does that mean for my family members?,What specific foods should I avoid, and are there any foods that might help reduce the odor?,Are there any medications or supplements that might help in my case?,Should my parents or siblings be tested for this condition?,What mental health resources do you recommend for people living with this condition?,Are there any clinical trials or new treatments being studied that I might be eligible for?,How often should I have follow-up appointments, and which specialists should be part of my care team?

Common questions about Autosomal recessive extra-oral halitosis

What is Autosomal recessive extra-oral halitosis?

Autosomal recessive extra-oral halitosis is a rare inherited condition that causes persistent bad breath (halitosis) that does not come from the mouth, teeth, or gums. Unlike the common form of bad breath, which is usually caused by poor dental hygiene or gum disease, this condition originates from inside the body. It is caused by changes (mutations) in both copies of a specific gene that affect how the body processes certain sulfur-containing compounds. When these compounds are not broken down properly, they build up and are released through the lungs when a person breathes out, creating a st

How is Autosomal recessive extra-oral halitosis inherited?

Autosomal recessive extra-oral halitosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.