Bent Bone Dysplasia Syndrome 1
Autozomálně dominantní
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.
Příznaky a projevy
Bowed long bones, which give the condition its name, along with other skeletal and skull changes.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
BBDS; bent bone dysplasia (BBD)-FGFR2 type; bent bone dysplasia syndrome; FGFR2-related bent bone dysplasia; perinatal lethal bent bone dysplasia
