Symptoms:

• 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

Signs 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.