Overview Of 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.
Commonly Associated With
Mandibulofacial dysostosis; Franceschetti syndrome
Causes Of Treacher Collins Syndrome
Changes to one of three genes, TCOF1, POLR1C, or POLR1D, can lead to this 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 Of Treacher Collins Syndrome
Symptoms may include:
- 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
- Cleft palate
Exams & 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
- Abnormally formed ears
- Abnormal ear canal
- Hearing loss
- 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.
Treatment Of Treacher Collins Syndrome
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.