Sweeney-Cox syndrome (DOID:0080538)
Alliance: disease page
Alt IDs: OMIM:617746
Definition: A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21.