Treacher Collins syndrome
Treacher Collins syndrome is a genetic condition that leads to problems with the structure of the face. Most cases are not passed down through families.
Causes
Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to Treacher Collins syndrome. The condition can be passed down through families (inherited). However, most of the time, there is not another affected family member.
This condition may vary in severity from generation to generation and from person to person.
Symptoms
Symptoms may include:
- Outer part of the ears are abnormal or almost completely missing
- Hearing loss
- Very small jaw (micrognathia)
Micrognathia
Micrognathia is a term for a lower jaw that is smaller than normal.
Read Article Now Book Mark Article - Very large mouth
- Defect in the lower eyelid
- Scalp hair that reaches to the cheeks
-
Cleft palate
Cleft palate
Cleft lip and palate are birth defects that affect the upper lip and the roof of the mouth.
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Exams and Tests
The child most often will show normal intelligence. An exam of the infant may reveal a variety of problems, including:
- Abnormal eye shape
- Flat cheekbones
- Cleft palate or lip
- Small jaw
-
Low-set ears
Low-set ears
Low-set ears and pinna abnormalities refer to an abnormal shape or position of the outer ear (pinna or auricle).
Read Article Now Book Mark Article - Abnormally formed ears
- Abnormal ear canal
-
Hearing loss
Hearing loss
Hearing loss is being partly or totally unable to hear sound in one or both ears.
Read Article Now Book Mark Article - Defects in the eye
- Decreased eyelashes on the lower eyelid
Genetic tests can help identify gene changes linked to this condition.
Treatment
Hearing loss is treated to ensure better performance in school.
Being followed by a plastic surgeon is very important, because children with this condition may need a series of operations to correct birth defects. Plastic surgery can correct the receding chin and other changes in face structure.
Receding chin
Micrognathia is a term for a lower jaw that is smaller than normal.
Read Article Now Book Mark ArticleSupport Groups
More information and support for people with Treacher Collins syndrome and their families can be found at:
- FACES: The National Craniofacial Association -- www.faces-cranio.org/
Outlook (Prognosis)
Children with this syndrome typically grow to become functioning adults of normal intelligence.
Possible Complications
Complications may include:
- Feeding difficulty
- Speaking difficulty
- Communication problems
-
Vision problems
Vision problems
There are many types of eye problems and vision disturbances, such as: Halos Blurred vision (the loss of sharpness of vision and the inability to see...
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When to Contact a Medical Professional
This condition is most often seen at birth.
Genetic counseling can help families understand the condition and how to care for the person.
Prevention
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Reviewed By
Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Dhar V. Syndromes with oral manifestations. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 337.
Goldstein JA, Davit AJ, Losee JE. Pediatric plastic surgery. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 23.
National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Treacher-Collins syndrome. rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome. Updated February 2023. Accessed October 17, 2023.
Posnick JC, Tiwana PS, Panchal NH. Treacher Collins syndrome: evaluation and treatment. In: Fonseca RJ, ed. Oral and Maxillofacial Surgery. 3rd ed. St Louis, MO: Elsevier; 2018:chap 40.
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