41. Perinnöllisyysklinikan Tietolehtiset Sekä Tilauslomake Avainsanat (synonyymit) fasiogenitaalinen dysplasia, Aarskogin syndrooma,aarskog syndrome, AarskogScott syndrome, facio-digito-genital syndrome http://www.vaestoliitto.fi/toimintayksikot/perinnollisyysklinikka/sisaltosivut/a

Erikoislääkäri Maarit Peippo Väestöliiton perinnöllisyysklinikka 2001 Aarskogin oireyhtymästä Avainsanat (synonyymit): fasiogenitaalinen dysplasia, Aarskogin syndrooma, Aarskog syndrome, Aarskog-Scott syndrome, facio-digito-genital syndrome, faciogenital dysplasia Aarskogin oireyhtymään kuuluu lyhytkasvuisuus, oireyhtymälle ominaiset kasvonpiirteet ja luustomuutokset sekä eräät lievät sukuelinpoikkeavuudet. Oireyhtymä kuvattiin ensimmäisen kerran vuonna 1970 ja tapauksia on lääketieteellisessä kirjallisuudessa julkaistu toista sataa. Oireyhtymään ei ole edelleenkään mitään käytännön tasolla toimivaa laboratoriodiagnostiikkaa vaikka sen aiheuttava geeni jo tunnetaankin. Diagnoosi perustuu tyypillisten fyysisten piirteitten tunnistamiseen. Aarskogin oireyhtymästä käytetään myös nimeä facio-genitaalinen dysplasia ja lyhennettä FGDY. Oireyhtymä periytyy X-kromosomisesti eli sitä tavataan yleensä vain pojilla ja miehillä. Aarskogille tyypillisiä kasvonpiirteitä ovat korkea otsa ja hiusten kasvun ylös suuntaava pyörre, pyöreät ja hiukan alas viistot luomiraot ja suurilta vaikuttavat, toisistaan tavallista etäämpänä olevat silmät (hypertelorismi). Nenä on lyhyt, leveä sekä matala ja edestä katsottaessa sierainaukot näkyvät. Ylähuulen seutu on leveä ja pitkähkö. Alahuulen alla on pieni poikkiuurre. Korvalehdet ovat usein hiukan poikkeavan muotoiset. Aarskogin oireyhtymään kuuluu melko lievä, syntymän jälkeen alkava lyhytkasvuisuus, jossa raajat ovat lyhyehköt suhteessa vartaloon. Murrosikäkehitys alkaa usein tavallista myöhemmin ja sen aikana kasvu voi suhteessa tavoittaa normaalipituutta. Poikien loppupituus on yleensä yli 160cm. Yhdellä Aarskog-potilaalla on raportoitu kasvuhormonipuute, monilla muilla tutkituilla sellaista ei ole löydetty. Kuitenkin on viitteitä siitä, että kasvuhormonihoidosta voisi olla hyötyä Aarskog-pojille. Hoito on kuitenkin arvioitava yksilöllisesti yhdessä lasten endokrinologiaan perehtyneen lääkärin kanssa.

42. Searchalot Directory For Aarskog Syndrome Related Web Sites. NORD aarskog syndrome - A look at the alternatenames, a general discussion and resources. Drkoop.com Medical http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Aars

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Aarskog Syndrome Related Web Sites NORD - Aarskog Syndrome - A look at the alternate names, a general discussion and resources. Drkoop.com: Medical Encyclopedia: Aarskog Syndrome - Looks at the causes, risk factors, symptoms, diagnosing, treatment, prognosis and complications. National Library of Medicine - Aarskog syndrome, the synonyms, a summary and a list of the major features. Pediatric Database - A definition of Aarskog syndrome and the epidemiology, pathogenesis, clinical features, investigations and management. Human Genome Mapping Project - A list of features for Aarskog syndrome.

43. Health Library - Aarskog Syndrome Saint Luke's Health System eLibrary. aarskog syndrome. aarskog syndrome is an extremelyrare genetic disorder marked by distinctive structural abnormalities. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h

44. Health Library General). aarskog syndrome. aarskog syndrome Family Support GroupAarskogSyndrome. Abiding Hearts, Inc.-Childbirth / Breastfeeding. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/_SearchResults.asp?l

45. Conditions And Diseases: Genetic Disorders: Aarskog Syndrome | Treasure Coast He Information on Conditions and Diseases, Genetic Disorders, AarskogSyndrome and much more Treasure Coast Health. Find Doctors on http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis

Find Doctors on the Treasure Coast Select Specialty Ambulatory Care Anesthesiology Cardiology Dermatology Emergency Medicine Endocrinology Family Practice Gastroenterology Hematology/Oncology Infectious Diseases Internal Medicine Maxillofacial Surgery Neonatology Nephroology Neurology Neurosurgery Obstetrics/Gynecology Ophthalmology Orthopedic Surgery Otolaryngology Pathology Pediatics Physical Medicine Plastic Surgery Podiatry Psychiatry Psychology Pulmonary Radiation Oncology Radiology Rheumatology Surgery Thoracic Surgery Urology Vascular Surgery Select City Sebastian Palm Bay Vero Beach Fort Pierce Okeechobee Port St. Lucie Jensen Beach Stuart Palm City Hobe Sound Loxahatchee MENU Home Doctor Directory Health Resources Women Only ... About Us Conditions and Diseases: Genetic Disorders: Aarskog Syndrome See also: Health: Conditions and Diseases: Musculoskeletal Disorders Health: Conditions and Diseases: Rare Disorders http://www.nutrisystem.com We have helped millions of people lose weight for more than 30 years. Lose up to 10 lbs. in your first month! Family Village - Aarskog Syndrome - Offers links for support and information concerning this disease.

46. Health Library Find Information On Aarskog Syndrome At Find information on aarskog syndrome at MerckSource. Learn more about Aarskog Aarskogsyndrome. Definition An inherited disease characterized http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

47. Rare Diseases List - Office Of Rare Diseases Disease aarskog syndrome. Synonyms AarskogScott syndrome ; Scott aarskog syndrome.Faciodigitogenital syndrome (FGDY). Faciogenital dysplasia. Aarskog Disease. http://ord.aspensys.com/diseaseinfo.asp?ID=4775

48. ENLmedical.com: Conditions And Concerns: Medical Encyclopedia: Aarskog Syndrome Table of content. aarskog syndrome. Causes and Risks aarskog syndrome is thoughtto be either an autosomal recessive or semidominant inherited disorder. http://www.enlmedical.com/article/001654.htm

Medical Dictionary Naturapathic Glossary Aphrodisiacs Immune System ... Table of content Aarskog syndrome Causes and Risks: Aarskog syndrome is thought to be either an autosomal recessive or semi-dominant inherited disorder. It is carried on the X chromosome . This disorder affects mainly males, although females may carry some of the features. Symptoms: 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" wideset 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 delayed eruption of teeth top portion of the ear folded over slightly small, broad hands and feet short fingers and toes with mild webbing simian crease (single) in palm of hand mildly concave sternum protruding umbilicus (navel) inguinal hernias "shawl" scrotum , undescended testicles mild mental deficiency palpebral slant - eye pectus excavatum Signs and Tests: X-rays will reveal skeletal abnormalities.

49. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders Sites Family Village aarskog syndrome - Offers links for supportand information concerning this disease. Human Genome Mapping http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Top Health Conditions and Diseases Genetic Disorders : Aarskog Syndrome See also: Health: Conditions and Diseases: Musculoskeletal Disorders Health: Conditions and Diseases: Rare Disorders Sites: Family Village - Aarskog Syndrome - Offers links for support and information concerning this disease. Human Genome Mapping Project - A list of features for Aarskog syndrome. National Library of Medicine - Aarskog syndrome, the synonyms, a summary and a list of the major features. NORD - Aarskog Syndrome - A look at the alternate names, a general discussion and resources. OMIM: National Center for Biotechnology Information - Clinical synopsis for Aarskog syndrome. Pediatric Database - A definition of Aarskog syndrome and the epidemiology, pathogenesis, clinical features, investigations and management. Last update: 14:07 PT, Wednesday, October 23, 2002 Help build the largest human-edited directory on the web.

50. Zeal.com - United States - New - Personal - Health - Conditions & Illnesses - Ge great resource for United States New - Personal - Health - Conditions Illnesses- Genetic Disorders - More Conditions AZ - Conditions A - aarskog syndrome. http://www.zeal.com/category/preview.jhtml?cid=10068121

51. Directory :: Look.com aarskog syndrome (7) See Also. Family Village aarskog syndrome Offerslinks for support and information concerning this disease. http://www.look.com/searchroute/directorysearch.asp?p=524970

52. Mioti: Medical Condition Main Page Add Website Add Conference Advertising Information Email Mioti. Conditionaarskog syndrome. MEDLINEplus aarskog syndrome. NORD aarskog syndrome. http://www.mioti.com/cat/condition/condition.asp?Cat=AarskogSyndrome

53. Mioti: Medical Condition A B C D E F G H I J K L M N O P Q R S T U V W X Y Z • aarskog syndrome, • Aase Syndrome. http://www.mioti.com/cat/condition/results.asp?Alpha=A

54. Aarskog Syndrome aarskog syndrome. Alternate Names Hypertelorism Scott syndrome. Causes and Risksaarskog syndrome is an xlinked recessive chromosome disorder. This http://www.rwjuhh.net/Atoz/encyclopedia/article/001654.asp

For a complete list of hospital classes and events, click here to connect to HealthConnection Online Medical Encyclopedia Encyclopedia Disease A -> Aarskog syndrome Aarskog syndrome Alternate Names: Hypertelorism disorder; Aarskog-Scott syndrome Causes and Risks: Aarskog syndrome is an x-linked recessive chromosome disorder. This disorder affects mainly males, although females may carry some of the features. Symptoms: short stature which may not be obvious until the child is between 1 and 3 years old possible delayed sexual maturation rounded face wideset 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 delayed eruption of teeth top portion of the ear folded over slightly small, broad hands and feet short fingers and toes with mild webbing simian crease (single) in palm of hand mildly concave sternum protruding umbilicus (navel) inguinal hernias "shawl" scrotum , undescended testicles mild mental deficiency palpebral slant - eye pectus excavatum Signs and Tests: X-rays will reveal skeletal abnormalities.

55. Genetic Disorders Information, Support And Other Resources For UK Patients top of this page. Support groups aarskog syndrome, 101 Seaview Road,Wallasey, Merseyside CH45 5NZ Email aarskoginfo@lineone.net; http://www.equip.nhs.uk/topics/genetic.html

Genetic disorders Home Information Topics Further information General Health Information ... Other information What are genetic disorders? The following links take you straight to pages of information about genetic disorders. This information has been checked by doctors to ensure it is correct and appropriate for UK patients. British Society for Paediatric Endocrinology and Diabetes - contains information written by a specialist doctor on: Achondroplasia, Congenital Adrenal Hyperplasia (21 hydroxylase), Congenital Adrenal Hyperplasia (11 hydroxylase), Congenital Adrenal Hyperplasia - treatment in pregnancy, Complete Androgen Insensitivity Syndrome (CAIS), Congenital Hypothyroidism, Coeliac Disease, Delayed Puberty, Diabetes Insipidus, Grave's Disease (Thyrotoxicosis), Growing Pains, Gynaecomastia, Hypopituitarism, Hypothyroidism (Acquired), Klinefelter's Syndrome, Labial Adhesions, Marfan's Syndrome, Overweight, Partial Androgen Insensitivity Syndrome (PAIS), Precocious Puberty, Steroid Replacement, Steroid Treatment, Tall Stature, Turner's Syndrome Contact a Family - information and support on many specific conditions and rare disorders written by doctors EQUIP also has separate pages of information on rheumatic disorders/arthritis congenital heart diseases food intolerance and many other topics that might also be useful.

56. Health Library - Aarskog Syndrome Search. aarskog syndrome. None. General Discussion. aarskog syndrome is an extremelyrare genetic disorder marked by distinctive structural abnormalities. http://uhcs.universityhealth.org/Library/healthguide/illnessConditions/topic.asp

57. Definitions Of Genetic Disorders-F. what_is_FAS.htm. FDG (FacialDigital Genital Syndrome) (aarskog syndrome)http//www.stepstn.com/nord/rdb_sum/615.htm. FG Syndrome http://www.icomm.ca/geneinfo/def-f.htm

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter F Click on the link next to the disorder to view its definition. fanconi.htm FAA fanconi.htm Fabry Disease fabry.htm FAC fanconi.htm FACB fanconi.htm FACD fanconi.htm FACE fanconi.htm FACF fanconi.htm FACG fanconi.htm FACH fanconi.htm Facial Nerve Palsy bellsp.htm Facial Paralysis bellsp.htm Facial Ectodermal Dysplasias ed.htm Facial Ectodermal Dysplasia setleis.htm Facio-Scapulo-Humeral Dystrophy fsh.htm Facio-Auriculo-Vertebral Spectrum goldenhar.htm Facio-cardio-cutaneous syndrome cfc.htm Facio-Fronto-Nasal Dysplasia ffnd.htm Faciocutaneoskeletal Syndrome costello.htm Faciodigitogenital syndrome aarsk.htm Faciogenital dysplasia aarsk.htm Faciogenitopopliteal Syndrome popiteal.htm Faciopalatoosseous Syndrome opd.htm

58. Nature Publishing Group Article. Two novel mutations confirm FGD1 is responsible for the aarskog syndrome. Abstract.The aarskog syndrome or faciogenital dysplasia (FGDY, MIM No. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v8/n11/abs/5200553

59. Aarskog Syndrome aarskog syndrome. Treatment Orthodontic treatment Seek genetic counselingif there is aarskog syndrome in your family. Seek evaluation http://www.pennhealth.com/ency/article/001654trt.htm

Disease Injury Nutrition Poison ... Prevention 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. Support Groups: The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome and can be found at http://www.magicfoundation.org Expectations (prognosis): Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility. Complications: Some recent findings have included cystic changes in the brain and generalized seizures . There may be difficulty growing in the first year of life in up to one third of cases. Misaligned teeth may require orthodontic correction. An undescended testicle will require surgery. Calling your health care provider: Call your health care provider if your child exhibits delays in growth or if you notice any of the irregularities described here. Seek genetic counseling if there is Aarskog syndrome in your family. Seek evaluation by a geneticist if your doctor thinks you or your child may have Aarskog syndrome. 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.

60. Aarskog Syndrome - Overview aarskog syndrome. Alternative names Causes, incidence, and risk factorsaarskog syndrome is an xlinked recessive chromosome disorder. http://www.wfubmc.edu/besthealth/ency/article/001654.htm

Click here for more Health Information from: Disease Injury ... Treatment Aarskog syndrome Alternative names: Hypertelorism disorder; Aarskog-Scott syndrome Definition: An inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. Causes, incidence, and risk factors: Aarskog syndrome is an x-linked recessive chromosome disorder. This disorder affects mainly males, although females may carry some of the features. Review Date: 3/16/01 Reviewed By: Victoria Kennedy, R.N., adam.com editorial The information provided herein should not be used for diagnosis or treatment of any medical condition. It is provided for your general information and is not a substitute for medical care or supervised medical treatment. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. adam.com is a founding member of Hi-Ethics (http://www.hiethics.com) . adam.com also subscribes to the HONcode principles of the Health On the Net Foundation (http://www.hon.ch)

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