Here we describe a novel GDF5 Trp to Arg transition (p.W414R) in patients with multiple synostoses syndrome 2 (SYNS2), including proximal and distal symphalangism, metacarpophalangeal synostosis, and synostosis of carpal and tarsal bones as well as BDA1 with severe hypoplasia and even aplasia of the middle phalanges. The gene discussed is IHH; the disease is multiple synostoses syndrome 2.