" /> Treacher collins syndrome 3 - CISMeF





Preferred Label : Treacher collins syndrome 3;

Symbol : TCS3;

CISMeF acronym : TCS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mandibulofacial dysostosis, treacher collins type, autosomal recessive;

Description : Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011). For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (154500).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polymerase I, RNA, subunit C gene (POLR1C, 610060.0001);

Prefixed ID : #248390;

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29/07/2025


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