Living with Deafness-craniofacial syndrome
A very rare condition with hearing loss from birth and distinct facial features, described in one family.
Understanding Deafness-craniofacial syndrome
Facial features include an uneven face, a broad nose root, and small nostril edges. It has been described in a father and daughter in one Jewish family. Thinning hair near the temples was also seen. It appeared to be passed down in an autosomal dominant way.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from inner ear or nerve changes
- Uneven (asymmetric) face
- Wide nasal bridge
- Thin hair near the temples
- Prominent forehead
- Deeply set eyes
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 and genetic 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); Genetic specialists (geneticists)
- 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 says changes in genes cause this condition. It appeared to be autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: deafness craniofacial syndrome; hearing loss-craniofacial syndrome
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 Deafness-craniofacial syndrome.
Explore research for Deafness-craniofacial syndrome
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- Recruiting studies from ClinicalTrials.gov
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- 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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