Living with Treacher Collins syndrome 3
A form of Treacher Collins syndrome that affects the bones of the face and is caused by changes in the POLR1C gene.
Understanding Treacher Collins syndrome 3
Treacher Collins syndrome affects how the bones of the face develop. GARD lists features such as underdeveloped cheekbones, a small lower jaw, small ears, hearing loss, and a cleft palate.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped cheekbones
- Small lower jaw (micrognathia)
- Small ears (microtia)
- Hearing loss from ear differences (conductive)
- Cleft palate
- Notch in the lower eyelid (coloboma)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Children's 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
This type is caused by changes in the POLR1C gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: polr1c treacher-collins syndrome; polr1c-related treacher collins syndrome; tcs3; treacher collins syndrome type 3; treacher-collins syndrome caused by mutation in polr1c
Patient organizations
- Children's Craniofacial AssociationTreacher Collins syndrome 3 · United States
- FACES: The National Craniofacial AssociationTreacher Collins syndrome 3 · United States
You are more than your diagnosis
Perspectives from people navigating life with Treacher Collins syndrome 3.
Explore research for Treacher Collins syndrome 3
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