Treacher Collins Syndrome (TCS) or mandibulofacial dystosis is a condition that affects the development of the bones and other tissues of the face.

Features

  1. Distinctive features of the face
    1. Underdeveloped cheek bones
    2. Micrognathia ( small lower jaw and chin)
    3. Underderveloped/malformed ears
    4. Hearing loss is common
    5. Down slanting eyes
    6. Notched lower eyelids ( coloboma)
    7. Vision loss in a few cases
  2. Normal intelligence and IQ
  3. Cleft palate
  4. Delayed Speech and Language milestones

Cause

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.

Intervention

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.