GTR Home > Conditions/Phenotypes > Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive

Disease characteristics

Excerpted from the GeneReview: Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is characterized by hypoplasia of the zygomatic bones and mandible, external ear abnormalities, coloboma (notching) of the lower eyelid, absence of the lower eyelashes, and preauricular hair displacement onto the cheeks. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation (including ankylosis, hypoplasia, or absence) of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other less common abnormalities include cleft palate with or without cleft lip and unilateral or bilateral choanal stenosis or atresia.

Available tests

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Associated genes

Clinical features

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  • Lower eyelid coloboma
  • Malar flattening
  • Downslanted palpebral fissures
  • Micrognathia
  • Cleft palate
  • Abnormality of the outer ear
  • Mandibulofacial dysostosis
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