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Treacher Collins syndrome

Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. It is also known as Treacher Collins-Franceschetti syndrome and mandibulofacial dysostosis. Treacher Collins syndrome is found in 1 in every 50,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears. more...

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Its most common name is after Dr Edward Treacher Collins (1862-1932), English surgeon and ophthalmologist, who described the essential traits of the syndrome in 1900.

The disease is caused by mutations in the TCOF1 gene (chromosome 5q32-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 signs and 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. 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.

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Treacher Collins syndrome
From Ear, Nose & Throat Journal, 10/1/99 by Helga V. Toriello

Although Thomson [1] and Toynbee [2] likely first described the entity now known as Treacher Collins syndrome, Treacher Collins [3] first characterized it, and thus the syndrome bears his name. This condition, which is also referred to as mandibulofacial dysostosis, consists of craniofacial anomalies, cleft palate, and deafness. The facial anomalies, which are usually bilateral and symmetric, consist of down-slanting palpebral fissures, colobomata of the lower eyelid, scanty lower eyelashes, malar hypoplasia, and micro- or retrognathia. There is a palatal cleft in 35% of patients, and an additional 30 to 40% have congenital palatopharyngeal incompetence. [4,5] Ear anomalies are common and vary from minor malformations to severe microtia. Hearing loss is common, and can occur secondary to atresia of the auditory canals or ossicular malformation of the middle ear.

Perhaps the most life-threatening concomitant morbidities in patients with Treacher Collins syndrome are respiratory problems and respiratory failure. Initially, these conditions were thought to be secondary to glossoptosis; more recently, it has been determined that the anatomy of the airway plays a major role in determining the risk of airway compromise. Patients with Treacher Collins syndrome might have basicranial kyphosis, narrowing of the pharynx, and severe microretrognathia with deficient ramal height. [6,7]

Treacher Collins syndrome is inherited in an autosomal-dominant fashion, with as many as half of all cases attributable to a new mutation. Its variability of expression is rather wide, and some affected individuals have virtually no overt clinical manifestations. Thus, genetic counseling is rather difficult in the case of a child with Treacher Collins who is born to apparently unaffected parents. Recently, however, the causative gene has been identified and sequenced. [8] The responsible gene is TCOF1 (with the gene product called treacle). Its map location is 5q31.3-33.3. Identification of its location facilitates the use of linkage analysis in cases of possible reduced penetrance of the phenotype.

From Spectrum Health Genetics Services, Grand Rapids, Mich.

References

(1.) Thomson A. Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons. Monthly J Med Sci 1846;7:420.

(2.) Toynbee J. Description of a congenital malformation in the ears of a child. Monthly J Med Sci 1847;1:738-9.

(3.) Treacher Collins E. Case with symmetrical congenital notches in the Outer part of each lid and defective development of the malar bones. Trans Ophthalmol Soc UK 1900;20:190-2.

(4.) Gorlin RJ, Toriello HV, Cohen MM Jr. Hereditary Hearing Loss and Its Syndromes. New York: Oxford Press, 1995:62-5.

(5.) Dixon MJ. Treacher Collins syndrome. Hum Mol Genet 1996;5:1391-6.

(6.) Shapira J, Gleicher H, Moskovitz M, Peretz B. Respiratory arrest in Treacher-Collins syndrome: Implications for dental management: Case report. Pediatr Dent 1996;18:242-4.

(7.) Arvystas M, Shprintzen RJ. Craniofacial morphology in Treacher Collins syndrome. Cleft Palate Craniofac J 1991;28:226-31.

(8.) Dixon J, Edwards SJ, Anderson I, et al. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res 1997;7:223-34.

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COPYRIGHT 2004 Gale Group

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