Treacher-Collins syndrome
Alternative Names
Mandibulofacial dysostosisSymptoms
- External ears that are abnormal to almost completely missing
- Hearing loss
- Very small jaw (micrognathia)
- Very large mouth
- Defect in the lower eyelid called acoloboma
- Scalp hair that extends onto cheeks
- Cleft palate
Exams and Tests
The child usually will show normal intelligence. Examination of the infant may reveal a variety of problems, including:
- Abnormal eye shape
- 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 tests can be done to look for mutations on the TCS1 gene.
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