COL2A1 and otospondylomegaepiphyseal dysplasia: While the majority of people with Stickler syndrome have pathogenic variants in COL2A1, approximately 10–20% have mutations in COL11A1 or COL11A2. Furthermore, loss of function mutations in COL11A2 cause otospondylomegaepiphyseal dysplasia (OSMED), a recessively inherited phenotype typically associated with Robin sequence [60] Otopalatal digital (OPD) syndromes types 1 and 2 are the result of mutations in FLNA, inherited in an X-linked recessive manner [61]; both are associated with hearing impairment, craniofacial differences including palatal clefts.