Treacher Collins syndrome

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Treacher Collins syndrome

 [tre´cher kol´inz]
the incomplete form of mandibulofacial dysostosis, characterized by downslanting eyes (antimongoloid palpebral fissures); absence of part of the lower lid, usually the outer third; underdeveloped cheekbones that appear depressed; a prominent nose, wide mouth, and small receding chin; underdeveloped, malformed, or prominent ears; and small tufts of hair in front of the ears. Affected individuals often, but not always, have some degree of hearing loss, usually conductive. Associated health problems are typically associated with narrowing of the pharynx and nasal passages, which interferes with breathing and may cause sleep apnea at night. Breathing problems should increase with age or may be treated surgically. Some children may require a tracheotomy and others may have feeding problems. Emotional support in dealing with the appearance of the face is important.

Treach·er Col·lins syn·drome

(trē'chĕr kol'ĭnz), [MIM*154500] Do not hyphenate Treacher Collins. Avoid the incorrect forms Collin and Collin's.
mandibulofacial dysostosis, when limited to the orbit and malar region.

Treach·er Col·lins syn·drome

(trē'chĕr kol'ĭnz), [MIM*154500] Do not hyphenate Treacher Collins. Avoid the incorrect forms Collin and Collin's.
mandibulofacial dysostosis, when limited to the orbit and malar region.

Treacher Collins syndrome

Etymology: Edward Treacher Collins, English ophthalmologist, 1862-1919
an inherited disorder, characterized by mandibulofacial dysostosis. See also Pierre Robin's syndrome.
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Treacher Collins syndrome

Treach·er Col·lins syn·drome

(trēch'ĕr kol'inz sin'drōm)
Mandibulofacial dysostosis characterized by bone abnormalities of structures formed from the first pharyngeal arch, including downward sloping palpebral fissures, depressed cheek bones, deformed pinnae, a receding chin, and a large, fishlike mouth with dental abnormalities. Atresia of the external acoustic meatus (auditory canal), defects of the external acoustic meatus and ossicles, and cleft palate are most common.
Synonym(s): mandibulofacial dysostosis.

Treacher Collins syndrome

An autosomal dominant disorder also known as incomplete mandibulo-facial dysostosis or the Collins-Franceschetti syndrome. It features down-sloping eyes, notches (colobomas) in the eyelids, small mouth and lower jaw, small distorted external ears and often hearing loss. The mutated gene and its protein product were identified in 1996. It is on the long arm of chromosome 5. Over 20 different mutations have been found. (Edward Treacher Collins, 1862–1932, Moorfields eye surgeon).

Collins,

Edward Treacher, English ophthalmologist, 1862-1919.
Treacher Collins syndrome - mandibulofacial dysostosis, when limited to the orbit and malar region. Synonym(s): Nager-de Reynier syndrome

Treach·er Col·lins syn·drome

(trēch'ĕr kol'inz sin'drōm) [MIM*154500]
Mandibulofacial dysostosis characterized by bone abnormalities of structures formed from the first pharyngeal arch, including a large, fishlike mouth with dental abnormalities.