Although skeletal dysplasias are relatively uncommon, collectively the birth incidence of these disorders is nearly one in every 4,000-5,000 births. Due to this rarity, limited research has been conducted on the gene code that controls bone growth, which means only a small handful of skeletal dysplasia types have had their gene codes mapped successfully.
The causes of skeletal dysplasias are nearly as diverse as the number of distinct disorders. Generally, however, the causes can be cataloged into three groups:
Nearly half of the documented skeletal dysplasias are caused by a genetic mutation that makes prenatal diagnosis possible through genetic testing.
However, prenatal diagnosis of skeletal dysplasias remains challenging, especially when there is no family history of the disorders. This is because: