1. Aarskog Syndrome / Library / The Family Village Offers links for support and information concerning this disease. http://www.familyvillage.wisc.edu/lib_aars.htm

Aarskog Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Aarskog Syndrome" Who to Contact Aarskog Syndrome Parents Support Group 62 Robin Hill Lane Levittown, Pennsylvania, USA, 19055-1411 E-mail: shannonfaith49@msn.com The Aarskog Syndrome Parents Support Group's purpose is to educate the public about the features and possible delays or learning difficulties that may or may not effect some of children with Aarskog Syndrome and to offer support by mail or phone when needed. The Support Group publishes a yearly newsletter, Aarskog News, for a minimal fee. The newsletter has a parent contact page for those wishing to get in touch with others who are affected by Aarskog. A new parent packet is available and contains past newsletters and articles that are on file. There is an article file containing writings by doctors on this syndrome from genetic books. There is a form available for those who wish to order specific articles. The Magic Foundation 6645 W. North Ave.

2. Aarskog Syndrome aarskog syndrome, the synonyms, a summary and a list of the major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome001.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Aarskog syndrome Synonyms Aarskog-Scott syndrome (ASS) Greig syndrome facial-digital-genital syndrome facio-digito-genital syndrome facio-genital dysplasia shawl scrotum syndrome Summary Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation. The phenotype varies with age and postpuberal males have only minor remnant manifestations of the prepuberal phenotype. Major Features Head and neck: A round face, broad forehead, hypoplastic ridging of the metopic sutures, and maxilla with relative mandibular prognathism are the main characteristics. Ears: Thickeners and fleshiness of the earlobes. Eyes: Hypertelorism, enlarged corneal diameter, downslanting palpebral fissures, blepharoptosis, and ophthalmoplegia. Mouth and oral structures: A curved depression below the lover lip may be associated. Abdomen: Prominent umbilicus is frequent.

3. NORD - National Organization For Rare Disorders, Inc. A look at the alternate names, a general discussion and resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Aarskog Syndr

4. MedlinePlus Medical Encyclopedia: Aarskog Syndrome aarskog syndrome is an inherited disease characterized by short stature, Seek genetic counseling if there is aarskog syndrome in your family. http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Aarskog syndrome Contents of this page: Illustrations Definition Causes, incidence, and risk factors Symptoms ... Prevention Illustrations The face Simian crease Pectus excavatum Definition Return to top Aarskog syndrome is an inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. Causes, incidence, and risk factors Return to top Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called found on the X chromosome. Symptoms Return to top mild to moderate short stature which may not be obvious until the child is between 1 and 3 years old possible delayed sexual maturation rounded face hairline has a "widow's peak" wide set eyes with droopy eyelids small nose with nostrils tipped forward underdeveloped mid-portion of the face wide groove above the upper lip, crease below the lower lip

5. MedlinePlus Medical Encyclopedia Aarskog Syndrome aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Aarskog Syndrome aarskog syndrome, the synonyms, a summary and a list of the major features. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. ? Aarskog Syndrome A medical encycopedia article on the topic aarskog syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Aarskog Syndrome aarskog syndrome information and links to national and international lay advocacygroups and support groups, clinics with genetic counselors and http://www.kumc.edu/gec/support/aarskog.html

Aarskog syndrome Aarskog Syndrome Parent Support 62 Robin Hill Lane Levittown, PA 19055-1411 Phone:(215) 943-7131 Contact: Shannon Caranci MAGIC Foundation for Children's Growth - Aarskog Division 62 Robin Hill Lane Levittown, PA 19055 Phone:(215) 943-7131 or (800) 362-4423 Contact: Shannon Caranci Aarskog Syndrome Support Group (U.K.) 57 Falkland Road Wallasey, Merseyside, CH44 8EW E-mail: aarskoginfo@yahoo.com Web site: http://website.lineone.net/~gongex/ Also See: National organizations information on genetic conditions or birth defects Clinical Synopsis of Aarskog Syndrome , OMIM (Online Mendelian Inheritance in Man) Medline Information , NIH To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised September 30, 2004 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

9. Human Genome Mapping Project A list of features for aarskog syndrome. http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?2

10. Aarskog Syndrome aarskog syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. OMIM - AARSKOG SYNDROME Clinical synopsis for aarskog syndrome. http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100050

12. AARSKOG SYNDROME A list of features for aarskog syndrome. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. NORD - National Organization For Rare Disorders, Inc. The aarskog syndrome Parents Support Group is a notfor-profit, self-helporganization dedicated to providing information and support to parents of children http://www.rarediseases.org/search/orgdetail_full.html?org_name=Aarskog Syndrome

14. AllRefer Health - Aarskog Syndrome aarskog syndrome information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. AllRefer Health - Aarskog Syndrome aarskog syndrome information center covers causes, prevention, symptoms, diagnosis,treatment, incidence, risk factors, signs, tests, support groups, http://health.allrefer.com/health/aarskog-syndrome-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Aarskog Syndrome Aarskog Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Definition Aarskog syndrome is an inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. The Face Simian Crease Pectus Excavatum Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome. Previous Top Next Jump to another section Definition Aarskog Syndrome Prevention Aarskog Syndrome Treatment Aarskog Syndrome Prognosis ... Calling Your Health Care Provider Topics that might be of interest to you Growth Hormone Other Topics Palpebral Slant - Eye Pectus Excavatum Puberty and Adolescence Scrotum ... Testes Review Date : 2/11/2002 Reviewed By : David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

16. Aarskog Syndrome / Library / The Family Village Who to Contact Where to Go to Chat with Others Learn More About It Web Sites Search Google for "aarskog syndrome" http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. AllRefer Health - Aarskog Syndrome Treatment aarskog syndrome information center covers Treatment. http://health.allrefer.com/health/aarskog-syndrome-treatment.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Aarskog Syndrome : Treatment of Aarskog Syndrome Aarskog Syndrome Definition Prevention Treatment Expectations or Prognosis Complications Support Groups Calling Your Health Care Provider ... Go To Main Page Aarskog Syndrome Treatment Orthodontic treatment may be attempted for some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder. Previous Top Next Jump to another section Definition Aarskog Syndrome Prevention Aarskog Syndrome Treatment Aarskog Syndrome Prognosis Aarskog Syndrome Complications Aarskog Syndrome Support Groups Calling Your Health Care Provider Topics that might be of interest to you Growth Hormone Other Topics Palpebral Slant - Eye Pectus Excavatum Puberty and Adolescence Scrotum ... Testes Review Date : 2/11/2002 Reviewed By : David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

18. Aarskog Syndrome aarskog syndrome information and links to national and international lay advocacy groups and support groups, clinics with genetic counselors and http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Indian Pediatrics - Editorial This child is a typical case of aarskog syndrome with all the primary and most of aarskog syndrome is a common syndrome of proportionate short stature http://www.indianpediatrics.net/april2002/april-400.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2002; 39:400 Aarskog Syndrome Fig. 1 ). His ears were low set with overfolded margins. He had a crease below the lip. Hands were small with characteristic swan neck deformity of fingers due to hyperextension at proximal inter-phalangeal joints and flexion at distal interphalangeal joints ( Fig. 2 ). He had shawl scrotum and was in stage II of sexual maturity scale. Echocardiogram and routine blood tests were normal. This child is a typical case of Aarskog syndrome with all the primary and most of the secondary diagnostic criteria. Aarskog Syndrome is a common syndrome of proportionate short stature described by Aarskog in 1970. The facial dysmorphic features are subtle but together give a characteristic appearance. Shawl scrotum without hypoplastic genitalia in a child with short stature is quite diagnostic of Aarskog syndrome but may be absent in 20% of cases and the appearance is lost in postpubertal boys. Most patients are of normal or low normal intelligence, however, mild and moderate mental retardation may be present in upto 30% of cases. Height initially is less than third centile, but there is usually some catch-up growth during puberty, which may be delayed in some cases. Aarskog syndrome is an X linked disorder and the responsible gene is faciogenital dysplasia (FGD1) gene on Xp11.21.

20. Aarskog Syndrome aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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