Treacher-Collins syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Treacher-Collins syndrome

Definition:

Treacher-Collins syndrome is a hereditary condition that causes facial defects.

Alternative Names:

Mandibulofacial dysostosis

Causes, incidence, and risk factors:

Treacher-Collins syndrome is inherited as an autosomal dominant trait. More than half of all cases are thought to be new mutations because there is no family history of the disease.

A defective gene, called treacle, is the cause of this disease. This condition has variable expression, which means there may be a great variation in severity from generation to generation.

Symptoms:

Abnormal external ears to almost complete absence of an ear
Hearing loss
Very small jaw (micrognathia)
Extra large mouth
Defect in the lower eyelid (coloboma)
Scalp hair extends onto cheeks
Cleft palate

Signs and tests:

The child usually will show normal intelligence. Examination of the infant can show various abnormalities, including:

Abnormal eye shape (palpebral fissure, antimongoloid slant)
Flat cheekbones
Facial clefts
Small jaw
Low-set ears
Malformed ears
Abnormal ear canal
Conductive hearing loss
Defects in the eye (coloboma that extends into the lower lid)
Decreased eyelashes on the lower eyelid

Treatment:

Treatment consists of testing for and treating any hearing loss so a child can perform up to normal level in school. Plastic surgery can address the receding chin and other defects.

Support Groups:

Treacher Collins Foundation
www.treachercollinsfnd.org
800-823-2055

Expectations (prognosis):

Children with Treacher-Collins should 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
Cosmetic appearance can cause other people to think the problem is worse than it is

Calling your health care provider:

This condition is usually apparent at birth. Call your health care provider if you have a child with Treacher-Collins syndrome and the hearing appears to be worse, or if other problems arise. A good plastic surgeon is very important as there is sometimes a need for a series of operations over years to correct birth defects.

Prevention:

Genetic counseling is appropriate for prospective parents with a family history of Treacher-Collins syndrome.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.