National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Femoral facial syndrome


Other Names:
Femoral dysgenesis, bilateral; FFS; Femoral hypoplasia unusual facies syndrome; Femoral dysgenesis, bilateral; FFS; Femoral hypoplasia unusual facies syndrome; FHUFS See More
Categories:
Femoral facial syndrome (FFS) is a rare condition characterized by underdevelopment of the thigh bone (femoral hypoplasia) and characteristic facial features.[1] 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.[1] 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.[2]

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.[3] Some cases have been reported in association with diabetes in the mother during pregnancy. Familial cases have rarely been described.[1][2]

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.[4]
Last updated: 5/16/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Short femur
Short thighbone
0003097
30%-79% of people have these symptoms
Abnormal sacrum morphology 0005107
Abnormality of fibula morphology
Abnormality of the calf bone
0002991
Aplasia/Hypoplasia of the tibia
Absent/small shankbone
Absent/small shinbone
Absent/underdeveloped shankbone
Absent/underdeveloped shinbone
[ more ] 		0005772
Coxa vara 0002812
Hip dysplasia 0001385
Long philtrum 0000343
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Maternal diabetes
gestational diabetes
0009800
Microtia
Small ears
Underdeveloped ears
[ more ] 		0008551
Preaxial foot polydactyly 0001841
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Thin upper lip vermilion
Thin upper lip
0000219
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Vertebral segmentation defect 0003422
5%-29% of people have these symptoms
Abnormal localization of kidney
Abnormal localisation of kidneys
0100542
Abnormality of cardiovascular system morphology 0030680
Aplasia/Hypoplasia of the corpus callosum 0007370
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Inguinal hernia 0000023
Long penis
Enlarged penis
0000040
Polycystic kidney dysplasia 0000113
Radioulnar synostosis
Fused forearm bones
0002974
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ] 		0008678
Rib fusion
Fused ribs
0000902
Scoliosis 0002650
Sprengel anomaly
High shoulder blade
0000912
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Ventriculomegaly 0002119
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape
Unusual facial appearance
0001999
Abnormal renal collecting system morphology 0004742
Abnormality of the pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears
[ more ] 		0000377
Absent vertebra
Absent vertebrae
0008465
Aplasia/hypoplasia of the femur
Absent/small thighbone
Absent/underdeveloped thighbone
[ more ] 		0005613
Dysplastic sacrum
Absence of some of the sacral and coccygeal bones
0008455
Esotropia
Inward turning cross eyed
0000565
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Hemivertebrae
Missing part of vertebrae
0002937
Humeroradial synostosis
Fusion of upper and lower arm bones
0003041
Hypoplastic acetabulae 0003274
Hypoplastic labia majora
Small labia majora
Underdeveloped vaginal lips
[ more ] 		0000059
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ] 		0002996
Limited shoulder movement 0006467
Micropenis
Short penis
Small penis
[ more ] 		0000054
Missing ribs
Absent ribs
Decreased rib number
[ more ] 		0000921
Preaxial hand polydactyly
Extra thumb
0001177
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Short fifth metatarsal
Short 5th long bone of foot
0004704
Short fourth metatarsal
Short 4th long bone of foot
0004689
Short humerus
Short long bone of upper arm
Short upper arms
[ more ] 		0005792
Short third metatarsal
Short 3rd long bone of foot
0004686
Smooth philtrum 0000319
Sporadic
No previous family history
0003745
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
Truncus arteriosus 0001660
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020
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.[2][5]
Last updated: 5/16/2017
The severity and specific symptoms in people with femoral facial syndrome (FFS) appear to vary among reported cases.[6] Because of this, outlook and life expectancy are difficult to predict. While it has been reported that survival is normal,[7] several cases of death before or shortly after birth have been described. There is limited published information available about adults with FFS.[5]

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).[5]
Last updated: 5/16/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for limb differences.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Femoral facial syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What is the prognosis for individuals with femoral facial syndrome, especially regarding mobility? What is the life expectancy for this condition? Can the condition be passed on to one's children? See answer


  1. Kniffin CL. Femoral facial syndrome. OMIM. January 6, 2011; http://www.ncbi.nlm.nih.gov/omim/134780.
  2. Hennekam RC. Femoral-facial syndrome. Orphanet. July 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1988.
  3. Spielmann M, Marx S, Barbi G, et. al. Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. Am J Med Genet A. May, 2016; 170A(5):1202-1207. https://www.ncbi.nlm.nih.gov/labs/articles/26822876/.
  4. Femoral Facial Syndrome. NORD. 2003; https://rarediseases.org/rare-diseases/femoral-facial-syndrome/.
  5. Nowaczyk MJM, Huggins MJ, Fleming A, Mohide PT. Femoral-facial syndrome: Prenatal diagnosis and clinical features. Report of three cases. American Journal of Medical Genetics Part A. 2010; 152A:2029-2033.
  6. Y Gillerot, C Fourneau, T Willems, L Van Maldergem. Lethal femoral-facial syndrome: a case with unusual manifestations. Journal of Medical Genetics. 1997; 34:518-519. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050981/pdf/jmedgene00248-0078.pdf. Accessed 1/21/2011.
  7. Castro S, Peraza E, Zapata M. Prenatal diagnosis of femoral-facial syndrome: case report. J Clin Ultrasound. January, 2014; 42(1):49-52. http://onlinelibrary.wiley.com/doi/10.1002/jcu.22034/abstract.