Femoral facial syndrome

Other Names: Femoral dysgenesis, bilateral; FFS; Femoral hypoplasia unusual facies syndrome; FHUFS

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

Cause

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.

Inheritance

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.

Signs and symptoms

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Cleft palate(Cleft roof of mouth)
• Micrognathia(Little lower jaw)
• Short femur(Short thighbone)

30%-79% of people have these symptoms

• Abnormal sacrum morphology
• Abnormality of fibula morphology(Abnormality of the calf bone)
• Aplasia/Hypoplasia of the tibia(Absent/small shankbone)
• Coxa vara
• Hip dysplasia
• Long philtrum
• Low-set ears(Low set ears)
• Maternal diabetes(gestational diabetes)
• Microtia(Small ears)
• Preaxial foot polydactyly
• Short nose(Decreased length of nose)
• Short stature(Decreased body height)
• Talipes equinovarus(Club feet)
• Thin upper lip vermilion(Thin upper lip)
• Upslanted palpebral fissure(Upward slanting of the opening between the eyelids)
• Vertebral segmentation defect

5%-29% of people have these symptoms

• Abnormal localization of kidney(Abnormal localisation of kidneys)
• Abnormality of cardiovascular system morphology
• Aplasia/Hypoplasia of the corpus callosum
• Cryptorchidism
• Undescended testes
• Inguinal hernia
• Long penis(Enlarged penis)
• Polycystic kidney dysplasia
• Radioulnar synostosis
• Fused forearm bones
• Renal hypoplasia/aplasia(Absent/small kidney)
• Rib fusion(Fused ribs)
• Scoliosis
• Sprengel(High shoulder blade)
• Strabismus(Cross-eyed)
• Ventriculomegaly

Diagnosis

The diagnosis is based on the combination of unusual facial features and the dysplastic or absent femurs. Diagnosis may be made antenatally.

Treatment

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.

NIH genetic and rare disease info

• NIH info on Femoral facial syndrome

Femoral facial syndrome is a rare disease.

Femoral facial syndrome Resources
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