Femoral facial syndrome
Other Names for this Disease
- Femoral dysgenesis, bilateral
- Femoral hypoplasia unusual facies syndrome
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cleft palate. Symptoms may affect one or both sides of the face and limbs. Cleft palate has been reported only in females. Other signs and symptoms occur variably. Intellectual development has been reported as normal. In most cases the cause of the condition is unknown (sporadic). Some cases have been reported in association with diabetes during pregnancy (maternal diabetes). There have been rare reports (three cases) describing a family with more than one affected member.Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and
Last updated: 4/30/2010
- Femoral facial syndrome. Online Mendilian Inheritance in Man. 2002; http://www.ncbi.nlm.nih.gov/omim/134780. Accessed 4/29/2010.
- Femoral hypoplasia - unusual facies syndrome. Orphanet. 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1988. Accessed 4/29/2010.
- The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
- The Fetus.net Web site has an information page on this topic. Click on Fetus.net to view the information page.
- More information on limb abnormalities can be found at the following link from MEDLINEplus, the National Library of Medicine Web site designed to help you research your health questions.
- 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.
- The University of Kansas Medical Center Web site lists resources for people with limb defects and their families. Click on the link above to view this list.
- 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.
- 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.