Overview
Genetic otorhinolaryngological malformation is a broad term used to describe birth defects that affect the ears, nose, and throat (also called the ENT region) and are caused by changes in a person's genes. The word 'otorhinolaryngological' comes from the medical terms for ear (oto), nose (rhino), and throat (laryngo). These malformations can range widely in type and severity. Some people may be born with structural differences in the outer ear, middle ear, inner ear, nasal passages, sinuses, voice box (larynx), or throat. These differences can lead to problems with hearing, breathing, swallowing, or speaking, depending on which structures are affected. Because this is a grouping term rather than a single specific condition, the symptoms, severity, and genetic causes can vary greatly from person to person. Some individuals may have mild differences that need little or no treatment, while others may require surgery or ongoing therapy. Diagnosis usually involves a combination of physical examination, imaging studies, hearing tests, and genetic testing. Treatment is tailored to the specific malformation and may include surgery to correct structural problems, hearing aids or cochlear implants for hearing loss, speech therapy, and other supportive care. Research continues to identify the specific genes involved and to develop better treatments for these conditions.
Key symptoms:
Hearing loss or deafnessAbnormally shaped outer earsMissing or underdeveloped earsNarrowed or blocked ear canalsDifficulty breathing through the noseNasal blockage present from birthCleft palate or other throat abnormalitiesDifficulty swallowingHoarse or weak voiceFrequent ear infectionsSpeech and language delaysBalance problems or dizzinessNoisy breathing or stridorAbnormal shape of the nose
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Genetic otorhinolaryngological malformation.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Genetic otorhinolaryngological malformation at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Genetic otorhinolaryngological malformation.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Genetic otorhinolaryngological malformation.
Community
No community posts yet. Be the first to share your experience with Genetic otorhinolaryngological malformation.
Start the conversation →Latest news about Genetic otorhinolaryngological malformation
No recent news articles for Genetic otorhinolaryngological malformation.
Follow this condition to be notified when news becomes available.
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.What specific type of ear, nose, or throat malformation does my child have?,Is genetic testing recommended, and what might it tell us?,Will my child need surgery, and if so, when is the best time?,How will this condition affect my child's hearing and speech development?,What therapies or early intervention services should we start?,Is this condition likely to affect future children in our family?,What specialists should be part of our care team?
Common questions about Genetic otorhinolaryngological malformation
What is Genetic otorhinolaryngological malformation?
Genetic otorhinolaryngological malformation is a broad term used to describe birth defects that affect the ears, nose, and throat (also called the ENT region) and are caused by changes in a person's genes. The word 'otorhinolaryngological' comes from the medical terms for ear (oto), nose (rhino), and throat (laryngo). These malformations can range widely in type and severity. Some people may be born with structural differences in the outer ear, middle ear, inner ear, nasal passages, sinuses, voice box (larynx), or throat. These differences can lead to problems with hearing, breathing, swallowi
At what age does Genetic otorhinolaryngological malformation typically begin?
Typical onset of Genetic otorhinolaryngological malformation is neonatal. Age of onset can vary across affected individuals.