Treacher Collins Syndrome (TCS) or mandibulofacial dystosis is a condition that affects the development of the bones and other tissues of the face.
- Distinctive features of the face
- Underdeveloped cheek bones
- Micrognathia ( small lower jaw and chin)
- Underderveloped/malformed ears
- Hearing loss is common
- Down slanting eyes
- Notched lower eyelids ( coloboma)
- Vision loss in a few cases
- Normal intelligence and IQ
- Cleft palate
- Delayed Speech and Language milestones
Mutations in the TCOF1, POLR1C or POLR1D gene are known to cause TCS. It is inherited in an autosomal recessive pattern. This condition affects 1 in 50000 children.
Depending on the presenting clinical features, a team of professionals including craniofacial surgeons, audiologists, speech and language pathologists and pediatricians is needed for the effective management of children affected by TCS.