Treacher-Collins syndrome

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Mandibulofacial dysostosis

• 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

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: 04/20/2005
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.