Treacher Collins Syndrome

Treacher-Collins syndrome is a genetic condition characterized by a defective protein called treacle, which affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Over 50% of cases are thought to be caused by a new genetic mutation as there is no family history.

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. Genetic tests can be done to look for mutations in the TCS1 gene. 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

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.

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.