Treacher Collins Syndrome
The diagnosis Treacher Collins syndrome can be established on clinical grounds.
When possible with confirmation by direct sequencing of the coding and flanking intronic regions of TCOF1, defects mutations which are present in most individuals with TCS.
Care for individuals with TCS requires a multidisciplinary team from birth through adulthood. Proper planning, counselling and surgical techniques are essential for optimizing outcomes.
While some individuals may experience very mild symptoms, others have extremely severe sypmptoms that may have serious consequences, such as life-threatening airway problems. Early operations focus on maintaining the airway, protecting the eyes, and supporting auditory neurological development. :ater operations include staged reconstruction of the maouth, face, and external ear. Bimaxillary surgery can improve the maxillomandibular facial prjection, but correction of malar, orbital rim, and temporal defects may be more difficult. The disorder is not associalted with developmental delay or neurologic disease.
Treacher Collins Syndrome is a genetic disorder characterized by hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of...