Femoral facial syndrome

Title

Other Names:

Femoral dysgenesis, bilateral; FFS; Femoral hypoplasia unusual facies syndrome; Femoral dysgenesis, bilateral; FFS; Femoral hypoplasia unusual facies syndrome; FHUFS See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Musculoskeletal Diseases See More

Summary Summary

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

Symptoms Symptoms

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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Inheritance 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.^[2]^[5]

Last updated: 5/16/2017

Prognosis Prognosis

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

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research

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.

Organizations Organizations

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

Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: staff@birthdefects.org
Website: https://www.birthdefects.org/

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.

Do you know of an organization? We want to hear from you.

Learn More Learn More

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

Paladini D, Maruotti GM, Sglavo G, Penner I, Leone F, D'Armiento MR, Martinelli P. Diagnosis of femoral hypoplasia-unusual facies syndrome in the fetus. Ultrasound Obstet Gynecol. 2007 Sep;30(3):354-8.
Gillerot Y, Fourneau C, Willems T, Van Maldergem L. Lethal femoral-facial syndrome: a case with unusual manifestations. J Med Genet. 1997 Jun;34(6):518-9.
Sabry MA, Obenbergerova D, Al-Sawan R, Saleh QA, Farah S, Al-Awadi SA, Farag TI. Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby. J Med Genet. 1996 Feb;33(2):165-7.
Burn J, Winter RM, Baraitser M, Hall CM, Fixsen J. The femoral hypoplasia-unusual facies syndrome. J Med Genet. 1984 Oct;21(5):331-40.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.

References References

Kniffin CL. Femoral facial syndrome. OMIM. January 6, 2011; http://www.ncbi.nlm.nih.gov/omim/134780.
Hennekam RC. Femoral-facial syndrome. Orphanet. July 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1988.
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/.
Femoral Facial Syndrome. NORD. 2003; https://rarediseases.org/rare-diseases/femoral-facial-syndrome/.
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.
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.
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.