Femoral facial syndrome - Rare Neurology News

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Disease Profile

Femoral facial syndrome

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US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

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

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 Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104 Orlando, FL 32814 Telephone: +1-407-895-0802 E-mail: [email protected] 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. 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. References Kniffin CL. Femoral facial syndrome. OMIM. January 6, 2011; https://www.ncbi.nlm.nih.gov/omim/134780. Hennekam RC. Femoral-facial syndrome. Orphanet. July 2009; https://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. https://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. https://onlinelibrary.wiley.com/doi/10.1002/jcu.22034/abstract. Rare Neurology News Advertisement Features Rare Disease Profiles 5 Facts Rare iQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Neurology News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2024 Rare Neurology News. All Rights Reserved. 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Rare Neurology News

Rare Neurology News

Neonatal

Q87.8

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Organizations

Organizations Supporting this Disease

Social Networking Websites

Learn more

Where to Start

In-Depth Information

Selected Full-Text Journal Articles

References

Rare Neurology News

Rare Neurology News

Neonatal

Q87.8

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Organizations

Organizations Supporting this Disease

Social Networking Websites

Learn more

Where to Start

In-Depth Information

Selected Full-Text Journal Articles

References

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.

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