As the deletion of the hs2696 enhancer resulted in a dramatic decrease of Fgfr3 transcript, variants affecting enhancers could induce Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) syndrome as known for the Fgfr3 loss-of-function in humans53,54. Here, FGFR3 is linked to Camptodactyly.