Mutations in GDF5 are associated with various autosomal recessive and dominant syndromes related to skeletal abnormalities, such as Brachydactyly C (BDC, OMIM, 113100), Acromesomelic chondrodysplasia Grebe type (AMDG, OMIM, 200700), Du Pan syndrome (DPS, OMIM, 228900), Symphalangism proximal 1B (SYM1B, OMIM, 615298), Multiple synostoses syndrome 2 (SYNS2, OMIM, 610017) and Brachydactyly A2 (BDA2, OMIM, 112600) [7–10]. The gene discussed is GDF5; the disease is multiple synostoses syndrome.