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.

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.
References in periodicals archive ?
Patient with Treacher Collins syndrome and with normal, unaffected ears.
Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol.
Treacher Collins syndrome: current evaluation, treatment, and future directions.
For Rebecca, 33, grew up with Treacher Collins syndrome, a rare condition that causes facial malformation and she was desperate not to pass it on to her own baby.
Such deformities include Treacher Collins syndrome, Goldenhar's syndrome, Nager's syndrome, temporomandibular joint ankylosis, and Pierre Robin sequence.
Treacher Collins syndrome, Pierre Robin syndrome, Goldenhar syndrome, or as a single feature without malformation, injection and reasons unknown.
Brian, from Edinburgh, was born with Treacher Collins syndrome. The genetic disorder affects the development of the head and neck - meaning he can't wear conventional hearing aids - and left him with hearing loss.
A 26-month-old boy with Treacher Collins syndrome (mandibulofacial dysostosis) had a history of obstructive sleep apnea characterized by loud snoring and dysphasia.
INTRODUCTION: Treacher Collins syndrome is a complex disorder characterized by hypoplasia of facial bones (mandible, maxilla, cheek bones), antimongoloid slant of palpebral fissures, coloboma of the lower lid, deafness, and bilateral anomalies of the auricle.
Jono Lancaster appeared in Love Me, Love My Face, a documentary about Treacher Collins syndrome. The rare genetic condition has made his life hard - adoption, bullying and operations are just some of the things he's had to endure.
Shannon was born with Treacher Collins Syndrome which causes facial malformations and severe hearing loss.