Treacher Collins syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Synonyms and keywords: Franceschetti-Zwahlen-Klein syndrome; Franceschetti–Klein syndrome; Mandibulofacial dysostosis
Overview
Treacher Collins syndromeis a rare genetic disorder characterized by craniofacial deformities. Treacher Collins syndrome is found in 1 in 10,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears.
This condition is a result of a defect of the first arch during development.
Eponym
It is named after Edward Treacher Collins (1862–1932), the English surgeon and ophthalmologist who described its essential traits in 1900.[1]
Cause
One known cause of this syndrome is a mutation in the TCOF1 gene, at chromosome 5-q32-q33.1. The protein coded by this gene is called treacle and has been hypothesised to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face. The disorder is inherited in an autosomal-dominant pattern.
Symptoms
The symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, which result in a sunken appearance in the middle of the face, a prominent nose, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth, called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.
People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. People with Treacher Collins Syndrome may also need a feeding tube because some cases are so severe people can't swallow . This condition is also characterized by absent, small, or unusually formed ears (pinnae), called microtia. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.
Trivia
Treacher Collins Syndrome was featured in the 2006 Nip/Tuck episode “Blu Mondae”.
Juliana Wetmore was born with this syndrome. She is featured in TLC's "Born Without A Face."[2], in which she is missing 30%-40% of bones in her face.[2]
See also
References
External links
- Support Groups: