Treacher Collins Syndrome

It is possible that the main title of the record Treacher Collins Disorder is not the name you anticipated. Please check the synonyms specifying to discover the alternative name(s) and also disorder class(s) covered by this rating.

Basic synonyms

  • TCS
  • Treacher Collins-Franceschetti disorder
  • mandibulofacial dysostosis
  • Franceschetti-Zwalen-Klein disorder

Problem Class

  • None

General Discussion
Treacher Collins disorder (TCS) is an uncommon congenital disease identified by unique abnormalities of the head and also face area resulting from underdevelopment (hypoplasia) of certain face structures including the jaw, cheekbones and close-by structures (zygomatic complex). Craniofacial problems tend to entail the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various face abnormalities, affected individuals might have malformations of the exterior ears and also middle ear frameworks as well as eye (ocular) problems consisting of an irregular descending slant to the position between the upper and also lower eyelids (palpebral cracks). Affected people might establish hearing loss and also breathing (respiratory) problems. Additionally, human brain and also behavior abnormalities such as microcephaly and also psychomotor hold-up have also been sometimes reported as component of the condition. The specific signs and physical features associated with TCS can vary greatly from one individual to one more. Some individuals might have light symptoms as well as go undiagnosed, while others might establish major, life-threatening respiratory system problems. TCS is caused by an anomaly in the TCOF1, POLR1C or POLR1D genetics. In the case of TCOF1 or POLR1D, the mode of inheritance is autosomal leading, while in the case of POLR1C it is autosomal recessive.

TCS is called after Edward Treacher Collins, a London eye doctor that first described the problem in the clinical literature in 1900. TCS is also referred to as mandibulofacial dysostosis or Treacher Collins-Franceschetti syndrome.

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