Here, we reported the clinical description, genomic investigation, and functional data of four families with type 2 SS/OSMED due to deleterious variants affecting intronic splicing sites of COL11A1 and COL11A2. Two variants (i.e., c.2241 + 5G>T and c.3168 + 5G>C in COL11A1) were novel, while the other two (i.e., c.2809 − 2A>G in COL11A1 and c.4392 + 1G>A in COL11A2) were unpublished and reported in ClinVar without any data on their actual outcome at the mRNA level. Here, COL11A1 is linked to otospondylomegaepiphyseal dysplasia.