Aarskog Syndrome (Aarskog-Scott Syndrome, Faciodigitogenital Dysplasia or Syndrome, Faciogenital Dysplasia, Shawl Scrotum Syndro

A malformed scrotumUndescended testiclesSmall, wide hands and feetShort fingers and toesIn some cases, mild webbing of fingers and toes, or simian crease in palm of handAbnormalities of the sternum (mildly sunken chest)Protruding navelInguinal herniasLigament problems, resulting in hyperextension of the kneesMild mental deficiencies (in about one-third of those affected) Undescended Testicle 2008 Nucleus Medical Art, Inc. Diagnosis The doctor will ask about your symptoms and medical history, and perform a physical exam. The diagnosis of Aarskog syndrome is usually based on facial characteristics. The diagnosis can be confirmed by x-rays of the face and skull. TreatmentThere is no known cure for Aarskog syndrome. Treatment is limited to surgical procedures to treat conditions caused by the disorder and supportive treatment. Orthodontic treatment is often needed, as well.Researchers have located abnormalities in the FGD1 gene in people with this syndrome, and genetic testing for mutations in this gene may be available.Treatment may include: Surgery Conditions that may be treated with surgery include: Inguinal herniaCleft lip or palateUndescended testicles OrthodonticsIn some cases, orthodontic treatment may help certain facial and dental abnormalities caused by the disorder.

Supportive TreatmentSupportive treatment generally includes educational assistance to those afflicted with mental deficiencies. Parents often need advice and supportive treatment. PreventionThere is no known way to prevent Aarskog syndrome. If you have Aarskog syndrome or have a family history of the disorder, you can talk with a genetic counselor when deciding to have children. RESOURCES: International Birth Defects Information Systemshttp://www.ibis-birthdefects.org National Organization for Rare Disorders, Inc.http://www.rarediseases.org CANADIAN RESOURCES: Health Canadahttp://www.hc-sc.gc.ca/index_e.html Ontario March of Dimeshttp://www.marchofdimes.ca/dimes/ CANADIAN RESOURCES: About Kids Healthhttp://www.aboutkidshealth.ca Ontario March of Dimeshttp://www.dimes.on.ca/asp/home.asp References: Emory and Rimoins, Principal and Practice of Medical Genetics . 3rd ed. Churchill Livingstone; 1997. National Organization for Rare Disorders website. Available at: http://www.rarediseases.org . Pasteris NG, Nagata K, Hall A, Gorski J. Isolation, characterization and mapping of mouse Fgd3 gene, a new faciogenital dysplasia (FGD1; Aarskog Syndrome) gene homologue. Gene . 2000;242:237-247.

US National Library of Medicine website. Available at: http://www.nlm.nih.gov/ . Last reviewed October 2007 by Mark A. Best, MD, MPH, MBA, FCAP, FASCPPlease be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.