http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002624/
Causes, incidence, and risk factors
Treacher-Collins syndrome is caused by a defective protein called treacle. The condition is passed down through families (inherited). More than half of all cases are thought to be due to new gene changes (mutations) because there is no family history of the disease.
This condition may vary in severity from generation to generation and from person to person.
Symptoms
- 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
Signs 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
- 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 be done to look for mutations in the TCS1 gene.
Treatment
Treatment involves testing for and treating any hearing loss so that a child can perform at a normal level in school. Plastic surgery can treat the receding chin and other defects.
Support Groups
Treacher Collins Foundation -- www.treachercollinsfnd.org
Expectations (prognosis)
Children with this syndrome typically grow to become normally functioning adults of normal intelligence. Careful attention to any hearing problems helps ensure better performance in school.
Complications
- Feeding difficulty
- Speaking difficulty
- Communication problems
- Vision problems
As stated above it can vary a lot from person to person, for example some people who are more severely affected than myself may need a trach in order to breathe properly. And some of the people who visit this blog may have seen the documentary of Juliana Wetmore known as the girl born without a face who has the most severe TCS I have come across.
What can be done:
- Surgery-obviously depends on the person and the severity but usually it is required in order to fix a cleft palate and other necessary things in order for the child to be able to survive. Can also be cosmetic for example to extend the jaw (also to improve function) or to create better looking ears.
- Hearing aid-as far as I'm aware most people with TCS are at least partially deaf such as myself this is due to a lack of ear canals. Again it depends on the person but the standard set up is a bone conductor hearing aid which transmits sound through vibrations it usually comes on a metal band but I have found a fabric band is much more comfortable. Another option is with a implant-Bone Anchored Hearing Aid, which is said to give better sound quality but requires surgery.
- Speech therapy
- Having great support from family, friends and teachers.
Apologies for the wall of text, this will probably be my longest and most serious posting but a necessary one at that.
