Rare Nephrology News

Disease Profile

Femoral facial syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Femoral dysgenesis, bilateral; FFS; Femoral hypoplasia unusual facies syndrome;

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;

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]

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.

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 arterios

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

    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.

      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

            References

            1. Kniffin CL. Femoral facial syndrome. OMIM. January 6, 2011; https://www.ncbi.nlm.nih.gov/omim/134780.
            2. Hennekam RC. Femoral-facial syndrome. Orphanet. July 2009; https://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. https://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. https://onlinelibrary.wiley.com/doi/10.1002/jcu.22034/abstract.

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