Mutations in the xylosyltransferase (XYLT1) gene encoding an enzyme involved in the formation of the linkage region leads to Desbuquois dysplasia type 2 (Phenotype MIM number: 615777), which is characteristic of skeletal abnormalities, including pre- and postnatal growth retardation, advanced carpal ossification, and short limb bone with a prominent trochanter in the femur [10,11,58,59]. Here, XYLT1 is linked to Desbuquois dysplasia 2.