Bent Bone Dysplasia Syndrome 1
Autoszomális domináns
Caused by specific changes in one copy of FGFR2, a growth factor receptor that controls bone formation. The reported changes increase the receptor's targeting to the nucleolus and delay the differentiation of bone-forming cells.
Tünetek és jelek
Bowed long bones, which give the condition its name, along with other skeletal and skull changes.
Mit változtat a diagnózis
Care is supportive or palliative depending on severity. Genetic counselling is recommended, as recurrence risk depends on whether the change is inherited from a parent.
Vizsgált gének
Más néven
BBDS; bent bone dysplasia (BBD)-FGFR2 type; bent bone dysplasia syndrome; FGFR2-related bent bone dysplasia; perinatal lethal bent bone dysplasia
