Living with Craniofacial-deafness-hand syndrome
A rare genetic condition with distinct facial features, severe hearing loss from birth, and hand differences.
Understanding Craniofacial-deafness-hand syndrome
People often have underdeveloped or absent nasal bones, giving a small nose and flat middle face. They also have wide-set eyes, narrow eye openings, a small upper jaw, and a small mouth with pursed lips. Profound hearing loss from the inner ear is present from birth. In the hands, the fingers are often angled toward the fifth finger, and some fingers may stay bent, which can lead to contractures that limit movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Profound hearing loss from the inner ear
- Small, flat nose
- Wide-set eyes (hypertelorism)
- Narrow eye openings
- Fingers angled outward (ulnar deviation)
- Permanently bent fingers (camptodactyly)
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.
- 3Consider genetic testing
Changes in PAX3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
It is caused by changes in the PAX3 gene. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: cdhs; craniofacial deafness hand syndrome; craniofacial-hearing loss-hand syndrome; sommer young wee frye syndrome; sommer-young-wee-frye 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 Craniofacial-deafness-hand syndrome.
Explore research for Craniofacial-deafness-hand syndrome
Explore actively recruiting Craniofacial-deafness-hand syndrome studies with HealthSpark.
Find actively recruiting studies for Craniofacial-deafness-hand syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Craniofacial-deafness-hand syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Craniofacial-deafness-hand syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Craniofacial-deafness-hand syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.