Treacher-Collins syndrome

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Synonyms: Franceschetti-Klein syndrome | Mandibulofacial dysostosis without limb anomalies

A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia) a very small low jaw (micrognathia) and downward-slanting palpebral fissures coloboma of the lower eyelids microtia hearing loss and without abnormalities of the extremities. Intelligence is normal.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Treacher-Collins syndrome?

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Clinical Trials

For a list of clinical trials in this disease area, please click here.