Living with Treacher Collins syndrome
A genetic condition that affects how the bones and tissues of the face develop, from barely noticeable to severe.
Understanding Treacher Collins syndrome
Signs range from almost unnoticeable to severe. Most people have underdeveloped cheekbones and a very small jaw and chin. Some have a cleft palate, and in severe cases the airway can be narrowed. Eyes often slant downward, with a notch in the lower eyelids. Ears may be absent, small, or unusually shaped, and about half of people have hearing loss. GARD says people usually have normal intelligence.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped cheekbones
- Very small jaw (micrognathia)
- Notch in the lower eyelid (coloboma)
- Eyes that slant downward
- Absent, small, or unusually shaped ears
- Hearing loss from ear bone or ear canal differences
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 bone and joint specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
American Cleft Palate Craniofacial Association and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, World Craniofacial Foundation
- 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 American Cleft Palate Craniofacial Association and other patient organizations
- 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 (variants) cause this condition and lists both autosomal dominant and autosomal recessive inheritance. It doesn't name a gene here.
Also known as: franceschetti klein syndrome; franceschetti syndrome; franceschetti-klein syndrome; mandibulofacial dysostosis without limb anomalies; treacher collins-franceschetti syndrome; treacher-collins syndrome
Patient organizations
- American Cleft Palate Craniofacial AssociationTreacher Collins syndrome · United States
- FACES: The National Craniofacial AssociationTreacher Collins syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Treacher Collins syndrome.
Explore research for Treacher Collins syndrome
Explore actively recruiting Treacher Collins syndrome studies with HealthSpark.
Find actively recruiting studies for Treacher Collins 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 Treacher Collins 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 Treacher Collins 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 Treacher Collins 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.