Extractions: 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.
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
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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
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
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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
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
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
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
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
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
Extractions: 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: Signs and Tests: X-rays will reveal skeletal abnormalities.
Extractions: Other information 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. 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.
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
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
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
Extractions: 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.
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
Extractions: 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)
