Treacher-Collins syndrome
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 http://www.orphadata.org. Data version April 2024
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Treacher-Collins syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
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Clinical Trials
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