Stickler syndrome: otological and orofacial features in distinct genotypes (Stickler syndroom)

Stickler syndrome, a hereditary connective tissue disorder caused by mutations in collagen genes, has a wide variety of clinical manifestations. Currently, knowledge is lacking about otological and orofacial characteristics. In this study, we want to gain insight in this, as well as a better understanding of the molecular background and pathogenesis on hearing loss and cleft palate of Stickler syndrome.