Bent Bone Dysplasia Syndrome 1 (BBDS1)

Bent Bone Dysplasia Syndrome 1, also known as bent bone dysplasia syndrome, is related to fgfr2-related bent bone dysplasia and bent bone dysplasia syndrome 2. An important gene associated with Bent Bone Dysplasia Syndrome 1 is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone and breast, and related phenotypes are hepatosplenomegaly and hypertelorism