Femoral facial syndrome

Disease Overview

Femoral facial syndrome (FFS) is a rare condition characterized by underdevelopment of the thigh bone (femoral hypoplasia) and characteristic facial features.[2348] 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.[2348] 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.[2349]

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.[13416] Some cases have been reported in association with diabetes in the mother during pregnancy. Familial cases have rarely been described.[2348][2349]

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.[13417]

Synonyms

• Femoral dysgenesis, bilateral
• FFS
• Femoral hypoplasia unusual facies syndrome
• FHUFS