The cause of FFS typically is not known, although genetic factors are thought to play a role. One case has been associated with a chromosome abnormality. Some cases have been reported in association with diabetes in the mother during pregnancy. Familial cases have rarely been described.

Treatment for FFS depends on the symptoms present in each person and may include surgery for the more serious bone deformities and/or other birth defects.

The vast majority of cases of femoral facial syndrome (FFS) have been sporadic (not inherited), in people with no family history of FFS. Occurrence in more than one family member has been reported in three cases.

Mobility in people with FFS varies depending on the severity of femoral hypoplasia. Femoral hypoplasia can vary from minimal shortening with minimal bowing to complete femoral agenesis (absence of the femur).