Living with Otofaciocervical syndrome
A rare genetic condition with distinct face and ear shapes, a long neck, sloping shoulders, hearing loss, and mild intellectual disability.
Understanding Otofaciocervical syndrome
Features include a long, triangular face, a broad forehead, large cup-shaped ears, a long neck, pits or cysts near the ears or neck, and sloping shoulders with winged shoulder blades. People may have hearing loss and mild intellectual deficit. Spine bone differences and short stature may also occur. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Large, protruding ears with pits in front of the ear
- Down-sloping shoulders
- Delayed development and intellectual disability
- High palate and full cheeks
- Increased muscle tone and reflexes
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 brain and nervous system 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
- Brain and nervous system specialists (neurologists); 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 lists autosomal dominant and autosomal recessive inheritance.
Also known as: familial oto-facio-cervical dysmorphia; fara chlupackova syndrome; fara-chlupackova syndrome; ofc; ofc 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 Otofaciocervical syndrome.
Explore research for Otofaciocervical syndrome
Explore actively recruiting Otofaciocervical syndrome studies with HealthSpark.
Find actively recruiting studies for Otofaciocervical 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
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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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