Abnormalities in the collagen type II alpha 1 chain (COL2A1) gene causing BDS have been reported several times during the last 15 years (achondrogenesis/hypochondrogenesis type II in Bos taurus; OMIA 001926-9913; https://omia.org/OMIA001926/9913/). This evidence concerns the gene COL2A1 and Diamond-Blackfan anemia.