Treacher-Collins syndrome is a condition that is passed down through families (hereditary) that leads to problems with the structure of the face.
Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome
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), but 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.
- Outer part of the ears are abnormal or almost completely missing
- Hearing loss
- Very small jaw (micrognathia )
- Very large mouth
- Defect in the lower eyelid (coloboma )
- Scalp hair that reaches to the cheeks
Exams and Tests:
The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:
- Abnormal eye shape
- Flat cheekbones
- Clefts in the face
- Small jaw
- Abnormally formed ears
- Abnormal ear canal
- Defects in the eye (coloboma that extends into the lower lid)
- Decreased eyelashes on the lower eyelid
Genetic tests can help identify gene changes linked to this condition.
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.
Children with this syndrome typically grow to become functioning adults of normal intelligence.
- Feeding difficulty
- Speaking difficulty
- Communication problems
When to Contact a Medical Professional:
This condition is usually seen at birth.
Genetic counseling can help families understand the condition and how to care for the patient.
Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.
Katsanis SH, Jabs EW. Treacher Collins syndrome. 2004 Jul 20 [Updated August 30, 2012]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews [serial online]. Seattle, WA: University of Washington, Seattle; 1993-2013. Accessed September 8, 2013.