Bent bone dysplasia syndrome is a disorder that affects the formation of the bones. It causes the skull, long, pubic and collar bones to be underdeveloped and weaker. The long bones, such as the bones in the arms and legs, have a characteristic bent appearance. In this condition the bones of the skull fuse together before the brain is fully formed which decreases brain size and causes the head to be misshapen. Those affected by this disorder may have distorted facial features like low set ears, teeth at birth and a smaller jaw. The disorder starts during fetal development and usually results in death before delivery or shortly after birth.
Bent bone dysplasia syndrome, is a genetic condition caused by a change (mutation) in the FGFR2 gene. Bent bone dysplasia syndrome is an autosomal dominant condition which means only one mutation is needed to cause symptoms. Almost all cases are the result of a de novo (newly occurring) mutation. De novo means that the gene change was not passed from a parent but occurred by random chance in the child.
Diagnosis is normally found before birth through ultrasounds and other prenatal tests. There is no treatment or cure for this condition.
If your family member has been diagnosed with bent bone dysplasia, talk with your doctor about the most current treatment options. Support groups are also good resources for support and information.
Description Last Updated: Jan 29, 2018