What is the definition of Femoral Facial Syndrome?
Femoral facial syndrome (FFS) is a rare condition characterized by underdevelopment of the thigh bone (femoral hypoplasia) and characteristic facial features. Facial features may include upward-slanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small lower jaw (micrognathia), and cleft palate. Other features of FFS may include defects of the spinal bones (vertebrae), extra fingers or toes (polydactyly), ear defects, genitourinary abnormalities, underdeveloped lungs, abnormal kidney development, and patent ductus arteriosus. Intellectual development typically is normal.
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.
What are the alternative names for Femoral Facial Syndrome?
- Femoral dysgenesis, bilateral
- Femoral hypoplasia unusual facies syndrome
What is the outlook (prognosis) for Femoral Facial Syndrome?
The severity and specific symptoms in people with femoral facial syndrome (FFS) appear to vary among reported cases. Because of this, outlook and life expectancy are difficult to predict. While it has been reported that survival is normal, several cases of death before or shortly after birth have been described. There is limited published information available about adults with FFS.
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).
Is Femoral Facial Syndrome an inherited disorder?
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.