PTHLH and trichorhinophalangeal syndrome: Differential diagnoses for BDE are Turner syndrome, tricho-rhino-phalangeal syndrome (TRPS) including TRPS type I, (OMIM #190350), TRPS type II (OMIM #150230) and TRPS type III, (OMIM #190351), BDE with short stature, parathyroid hormone-like hormone (PTHLH, OMIM #613382), isolated BDE: HOXD13 type (OMIM #113300) and BD mental retardation syndrome (OMIM #600430) (56).