Most children with Treacher Collins Syndrome have facial-related problems. These include but are not limited to speech and swallowing problems, vision problems, hearing problems, airway problems, breathing and sleep problems. The vision problems are related to eyelid function, hearing problems are related to inner and outer ear abnormalities, and the breathing and sleep problems are related to a small lower jaw and a normal-size tongue. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and underdevelopment of the middle ear cavities.
Ears
Hearing loss
Outer part of the ear abnormal or missing
Abnormal formed ears
Abnormal ear canal
Low set ears
Face
Downward slanting eyes
Notched lower eyelids
Underdeveloped or absent cheekbones
Undeveloped or absent eye socket
Decreased lashes on the lower eyelid
Abnormal eye shape
Scalp hair that extends to the cheekbones
Defects in the eye
Jaw and Teeth
Cleft palate
Small lower jaw and misaligned jaw
Wide mouth
Jaw usually short ad slopes at an angle