Recessive COL11A1 loss-of-function variants have previously been felt to be severely life-limiting, causing fibrochondrogenesis [27,28], but there are now several cases described of a Stickler phenotype, where the variants affect exon 9, which is alternatively spliced and not included in mature chondrocytes, resulting in SS with severe hearing loss. The gene discussed is COL11A1; the disease is synovial sarcoma.