Mutations in LRP4 cause not only CMS but also (i) Cenani–Lenz syndactyly syndrome (CLSS), which is characterized by syndactyly; (ii) sclerosteosis 2 (SOST2), which is characterized by sclerosing bone dysplasia; (iii) Richter syndrome (RS), which is characterized by the transformation of chronic lymphocytic leukemia to aggressive lymphoma; and (iv) a predisposition to low-trauma fracture (LTF) [60]. The gene discussed is LRP4; the disease is Cenani-Lenz syndactyly syndrome.