Overview
Deafness-craniofacial syndrome is an extremely rare genetic condition that combines hearing loss (deafness) with abnormalities in the shape and structure of the face and skull (craniofacial features). This condition is present from birth and affects how the bones and tissues of the head and face develop, along with the structures needed for hearing. Patients typically show sensorineural hearing loss, which means the inner ear or the nerve pathways from the inner ear to the brain do not work properly. Craniofacial features may include unusual facial shape, abnormalities of the nose, ears, or jaw, and sometimes other skeletal differences. Because this syndrome is so rare, the medical literature on it is limited. The condition falls under the broader category of syndromes that combine deafness with facial and skull abnormalities (classified under ICD-10 code Q87.0, which covers congenital malformation syndromes predominantly affecting facial appearance). Treatment is mainly supportive and focuses on managing hearing loss through hearing aids or cochlear implants, and addressing craniofacial differences through surgery or orthodontic care when needed. A team of specialists is usually involved in care, including audiologists, craniofacial surgeons, and geneticists. Early diagnosis and intervention, especially for hearing, can significantly improve communication development and quality of life.
Also known as:
Key symptoms:
Hearing loss or deafness from birthUnusual shape of the face or skullAbnormally shaped or positioned earsFlattened or broad nasal bridgeSmall or underdeveloped jawWide-set eyesDelayed speech and language developmentPossible dental abnormalitiesPossible skeletal differencesPossible growth delays
Clinical phenotype terms (14)— hover any for plain English
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 Deafness-craniofacial syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Deafness-craniofacial syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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 Deafness-craniofacial syndrome.
Community
No community posts yet. Be the first to share your experience with Deafness-craniofacial syndrome.
Start the conversation →Latest news about Deafness-craniofacial syndrome
No recent news articles for Deafness-craniofacial syndrome.
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 type and degree of hearing loss does my child have, and what are the best options for hearing support?,Are there craniofacial abnormalities that will need surgical correction, and when should surgery be considered?,Should we pursue genetic testing, and what can it tell us about the cause and recurrence risk?,What therapies should we start now to support speech and language development?,How often should my child be seen by each specialist on the care team?,Are there any other organs or systems we should monitor for problems?,What educational supports or accommodations should we request for school?
Common questions about Deafness-craniofacial syndrome
What is Deafness-craniofacial syndrome?
Deafness-craniofacial syndrome is an extremely rare genetic condition that combines hearing loss (deafness) with abnormalities in the shape and structure of the face and skull (craniofacial features). This condition is present from birth and affects how the bones and tissues of the head and face develop, along with the structures needed for hearing. Patients typically show sensorineural hearing loss, which means the inner ear or the nerve pathways from the inner ear to the brain do not work properly. Craniofacial features may include unusual facial shape, abnormalities of the nose, ears, or ja
At what age does Deafness-craniofacial syndrome typically begin?
Typical onset of Deafness-craniofacial syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Deafness-craniofacial syndrome?
1 specialists and care centers treating Deafness-craniofacial syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.