What are the other Names for this Condition? (Also known as/Synonyms)

• Bilateral Femoral Dysgenesis
• Femoral Hypoplasia Unusual Facies Syndrome (FHUFS)
• FFS (Femoral Facial Syndrome)

What is Femoral Facial Syndrome? (Definition/Background Information)

• 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 Femoral Facial Syndrome 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 Femoral Facial Syndrome depends on the symptoms present in each person and may include surgery for the more serious bone deformities and/or other birth defects

(Source: Femoral Facial Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Femoral Facial Syndrome? (Age and Sex Distribution)

• Femoral Facial Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Femoral Facial Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Femoral Facial Syndrome
• It is believed that a positive family history of the condition may be a risk factor
• Some research scientists believe that gestational diabetes (diabetes during pregnancy) may be a risk for FFS

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes for Femoral Facial Syndrome? (Etiology)

The cause of Femoral Facial Syndrome 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
• 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

(Source: Femoral Facial Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Femoral Facial Syndrome?

The signs and symptoms of Femoral Facial Syndrome vary, but may include the following:

• Abnormal facial shape
• Abnormality of pinna
• Abnormality of the renal collecting system
• Absent vertebra
• Aplasia/hypoplasia of the femur
• Esotropia
• Gastroesophageal reflux
• Hemivertebrae
• Humeroradial synostosis
• Hypoplastic acetabulum
• Hypoplastic labia majora
• Limited elbow movement
• Limited shoulder movement
• Micropenis
• Missing ribs
• Pulmonic stenosis
• Renal agenesis
• Short fifth metatarsal
• Short fourth metatarsal
• Short third metatarsal
• Short humerus
• Smooth philtrum
• Sporadic
• Toe syndactyly
• Truncus arteriosus
• Underdeveloped nasal alae
• Ventricular septal defect

Very frequently present symptoms in 80-99% of the cases:

• Micrognathia
• Short femur

Frequently present symptoms in 30-79% of the cases:

• Abnormality of fibula morphology
• Abnormality of the sacrum
• Aplasia/hypoplasia of the tibia
• Coxa vara
• Hip dysplasia
• Long philtrum
• Low-set ears
• Maternal diabetes
• Microtia
• Preaxial foot polydactyly
• Short nose
• Talipes equinovarus
• Upslanted palpebral fissure
• Vertebral segmentation defect

Occasionally present symptoms in 5-29% of the cases:

(Source: Femoral Facial Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Femoral Facial Syndrome Diagnosed?

Femoral Facial Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Femoral Facial Syndrome?

The complications of Femoral Facial Syndrome may include:

• Kidney dysfunction
• Physical deformities
• immobility

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Femoral Facial Syndrome Treated?

• Treatment for Femoral Facial Syndrome depends on the symptoms present in each person and may include surgery for the more serious bone deformities and/or other birth defects

(Source: Femoral Facial Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Femoral Facial Syndrome be Prevented?

• Currently, Femoral Facial Syndrome may not be preventable, since it is a genetic disorder
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Femoral Facial Syndrome? (Outcomes/Resolutions)

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)

(Source: Femoral Facial Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Additional and Relevant Useful Information for Femoral Facial Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/