Treacher-Collins syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Symptoms

Treatment

Prevention

Treacher-Collins syndrome

Alternative Names:

Mandibulofacial dysostosis

Symptoms:

Abnormal to almost completely absent external ears
Hearing loss
Very small jaw (micrognathia )
Very 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
Genetic testing for mutations on the treacle gene

Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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