LaRae Brown, MD


March 09, 2011

Treacher-Collins Syndrome

Treacher-Collins syndrome (TCS), also known as Treacher-Collins-Franceschetti syndrome, is a rare congenital genetic disorder. TCS is inherited in an autosomal-dominant fashion, but has marked phenotypic variability.[1] TCS is found in about 1 in 10,000-50,000 births and is characterized by craniofacial abnormalities.[2,3] A disorder of the first and second branchial arches, the clinical manifestations of TCS can vary. Research has identified the mutated gene in TCS, designated TCOF1, that encodes a phosphoprotein named treacle.[4] The organs frequently affected include the external ears and auditory canals, with resultant hearing difficulties. The palpebral fissures are usually displaced laterally with a downward slope, and hypoplasia of the facial bones, particularly affecting the mandible and zygomatic complex, is present. With advanced cases, the zygomatic arch may be absent and cleft palate may occur. In these severe manifestations, perinatal death may result secondary to a compromised airway.[5]


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