Mutations in the LRP2 gene (2q23.3–3.1) encoding the multiligand endocytic receptor LRP2/Megalin have been associated with two distinct rare genetic syndromes, the Donnai-Barrow or facio-acoustico-renal syndrome (DBS/FOAR) and the Stickler syndrome characterized by facial, skeletal and auditory findings [11,12]. Here, LRP2 is linked to Stickler syndrome.