People with Treacher Collins syndrome (TCS) have generally a distinctive facial appearance since birth with:
• Underdeveloped or absent cheekbones
• The lower jaw is incompletely developed so he appears abnormally small
• Abnormal ears, small ears
• Lower eyelid abnormalities
Potentially they develop hearing and vision problems. The facial anomalies can also affect breathing, swallowing and speaking.
The appearance and severity of the symptoms varies from one person to another, even in the same family. Affected individuals not have always all of the symptoms listed above. Sometimes the symptoms are so mild that the person remains undiagnosed.
Typically, the intelligence and fertility is normal.
Some rare cases with cardiac, rachis or renal malformations have been reported.