Treacher-Collins syndrome

Alternative names:

mandibulofacial dysostosis

Symptoms:

• abnormal external ears
• very small jaw (micrognathia)
• 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)
• a flat or hypoplastic malar region (cheekbones),
• facial clefts
• small jaw (micrognathia or hypoplastic mandible)
• low-set ears
• ear malformation (unusual shape to the ears)
• abnormal ear canal
• conductive hearing loss
• defects in the eye (coloboma that extends into the lower lid)
• decreased eyelashes on the lower eyelid