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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

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