Treacher collins syndrome

A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.

Disease Alternative Name

mandibulofacial dysostosis
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Concluded Case

TREACHER COLLINS SYNDROME also presents with mandibular hypoplasia, zygomatic hypoplasia, down slanted palpebral fissures, colobomas, and malformed ears

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Concluded answer

TREACHER COLLINS SYNDROME & PIERRE- ROBBIN SYNDROME : First pharyngeal arch Syndromes


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