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GTR Home > Conditions/Phenotypes > Sweeney-Cox syndrome

Summary

Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, TWIST, bHLHa38, TWIST1
    Summary: twist family bHLH transcription factor 1

Clinical features

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