81. Service Detail 12/19/2002 Lab , Short staturesyndrome, mental and physicl problems, behavior problems; This group will......Program Name, aarskog syndrome Parents Support Group. http://wwwprodapp.doa.louisiana.gov/services/user/ServiceDetail.cfm?servID=3689

82. Aarskog Syndrome aarskog syndrome. aarskog syndrome Parent Support Group,. c/o Shannon Caranci,62 Robin Hill Ln.,. Levittown, PA 190551411. (215) 943-7131 http://www.childhealthinfo.com/a/aarskog-syndrome.htm

AARSKOG SYNDROME Aarskog Syndrome Parent Support Group, c/o Shannon Caranci, 62 Robin Hill Ln., Levittown, PA 19055-1411 [Home] [Printed Guide] [Child Care for the '90's] [Links] ... MoreInfo@ChildHealthInfo.com

83. Disease - Aarskog Syndrome - Detroit, Michigan Disease aarskog syndrome - courtesy of Henry Ford Health System of Detroit, Michigan. http://www.henryfordhealth.org/12800.cfm

Health Encyclopedia Health Encyclopedia Health Encyclopedia Health Encyclopedia ... Health Encyclopedia Health Encyclopedia Back to main Health Information page Disease - Aarskog syndrome The face Simian crease Pectus excavatum Definition: Aarskog syndrome is an inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. Causes And Risk: 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. Prevention: There is no guaranteed prevention. Prenatal testing may be available in cases where a relative has a known mutation. Symptoms: 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 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

84. Aarskog Syndrome aarskog syndrome may be confused with Robinow Syndrome The Aarskogfaciodigitogenital syndrome (305400) is X linked in most instances; however, http://ibis-birthdefects.org/start/faciogen.htm

Tips for printing Aarskog Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Notice! For more about parental and patient support resources explore Support Groups . For general sources of information see Professional Associations and Information Sources Aarskog - Like Syndrome Aarskog - Scott Syndrome Faciodigitogenital Syndrome Faciodigitogenitalt Syndrom Faciogenital Dysplasia Faciogenitalt Syndrom FGDY Kuwait Type Faciodigitogenital Syndrome Note! Aarskog Syndrome may be confused with Robinow Syndrome Special Resources Aarskog Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Swedish] [Ukrainian] [*][P] Faciogenital Dysplasia (from OMIM) Gene Map Locus: Xp11.21 - Aarskog (1970) described an X linked disorder characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, and peculiar penoscrotal relations ('saddle bag scrotum' or 'shawl scrotum'). Affected males can reproduce - Scott (1971) emphasized the occurrence of ligamentous laxity manifest by hyperextensibility of the fingers, genu recurvatum, and flat feet - Tyrkus et al (1980) described mother and son with Aarskog Scott syndrome - Expression was complete in the mother - The mother and son had a reciprocal translocation between the X chromosome and chromosome 8 - Fryns (1992) concluded that the incidence of mental handicap in Aarskog syndrome may be as high as 30%.

85. Aarskog Syndrome - Patient UK UK sources of information and / or support; aarskog syndrome Information They have not been checked to see if aarskog syndrome is included but these http://www.patient.co.uk/showdoc/91/

Aarskog Syndrome UK sources of information and / or support Aarskog Syndrome Information from Contact a Family Further sources / More detailed information Some non-UK sites The following list popular non-UK health information sites, mainly from the US. They have not been checked to see if Aarskog Syndrome is included but these large sites are comprehensive. Non-UK disease / illness sites Non-UK self-help / support group sites Evidence Based Medicine For sites and information on Evidence Based Medicine. Searching Medline For information on Medline and how it is used to find detailed medical and health information. Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK. Health Related Books From Amazon - browse hundreds of books on health and disease. Also, worth a look... Related pages in Patient UK Other - Useful resources Pictures, diagrams, photos, images, etc. Evidence based medicine Online textbooks and journals Guidelines ... Top of Page Further services Need an operation but on a waiting list ? Are you considering having it done privately but are not insured? Find the best prices for your operation Next of Kin . In an emergency, alerts paramedics with your vital medical or allergy information. Plus immediate contact with your family or next of kin.

86. Aarskog Syndrome Synonyms, Eastern Carolina aarskog syndrome Synonyms University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties http://www.uhseast.com/111874.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Aarskog Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Aarskog Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms AAS Faciodigitogenital Syndrome Faciogenital Dysplasia FGDY Aarskog-Scott Syndrome Disorder Subdivisions None General Discussion 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 age, broad facial abnormalities, musculoskeletal and genital anomalies, and mild mental retardation. Resources MAGIC Foundation for Children's Growth 6645 W. North Avenue Oak Park, IL 60302 Tel: (708)383-0808 Fax: (708)383-0899 Tel: (800)362-4423 Email: mary@magicfoundation.org

87. Aarskog Syndrome, Eastern Carolina aarskog syndrome University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/117491.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Aarskog Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Aarskog Syndrome Family Support Group International network. Founded 1993. Mutual support, networking and sharing of ideas for families of children and adults affected with Aarskog syndrome. Pen pals, telephone support, information and referrals, newsletter. Parents Contact Page available for networking. WRITE: Aarskog Syndrome Family Support Group c/o Shannon Caranci 62 Robin Hill Lane Levittown, PA 19055 CALL: 215-943-7131 Shannon Caranci VERIFIED: 4/15/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

88. Aarskog Syndrome With Aortic Root Dilatation And Sub-valvular Aortic Stenosis: S aarskog syndrome is a familial condition associated with craniofacial anomalies, Given the association between aarskog syndrome and CHD, http://icvts.ctsnetjournals.org/cgi/content/full/4/1/47

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Interact CardioVasc Thorac Surg 2005;4:47-48. doi:10.1510/icvts.2004.089672 European Association of Cardio-Thoracic Surgery This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to Personal Folders ... Download to citation manager Author home page(s): Asif Hasan Joel Dunning PubMed Articles by Mahmoud Nouraei, S. Articles by Dunning, J. Related Collections Congenital - acyanotic Great vessels Case report - Congenital Aarskog syndrome with aortic root dilatation and sub-valvular aortic stenosis: surgical management S. Mahmoud Nouraei Asif Hasan Milind P. Chaudhari and Joel Dunning Regional Cardiothoracic Centre, Freeman Hospital, Newcastle upon Tyne, NE7 7DN, UK *Corresponding author. Tel./Fax: +44 780 1548122. E-mail address: (J. Dunning).

89. Surgery Door - Support Groups aarskog syndrome is a very rare genetic disorder. The aarskog syndrome SupportGroup (UK) was set up by two sisters whose family is affected by the http://www.surgerydoor.co.uk/sg/detail.asp?Recno=26740457

90. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ Human Genome Mapping Project A list of features for aarskog syndrome. Family Village - aarskog syndrome - Offers links for support and information http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Aarskog Syndrome Subtopics See Also: Health: Conditions and Diseases: Chronic Illness Health: Conditions and Diseases: Musculoskeletal Disorders Health: Conditions and Diseases: Rare Disorders Search Google: Aarskog Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).

91. Medical Directory - Information About Aarskog Syndrome Medical Directory Information about aarskog syndrome. About Us PrivacyPolicy FAQs Home. Home . Medical Directory . Disease . aarskog syndrome http://www.sainetsympa.com/ListingMedicalDirectory-A-1639.htm

Medical Directory - Information about Aarskog syndrome About Us FAQs Home Home ... Disease . Aarskog syndrome Information about Aarskog syndrome Definition Aarskog syndrome is 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 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 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 delayed eruption of teeth top portion of the ear folded over slightly small, broad hands and feet with short fingers and in-curving 5th finger

92. Opera Directory A list of features for aarskog syndrome. National Library of Medicine. Aarskogsyndrome, the synonyms, a summary and a list of the major features. http://portal.opera.com/directory/?cat=524970

93. Palm Beach Post: Palm Beach & Treasure Coast News, Sports, Entertainment, Jobs, aarskog syndrome is an xlinked recessive genetic disorder. This disorder affectsmainly males, although females may have milder manifestation of some of http://www.palmbeachpost.com/health/healthfd/shared/health/adam/ency/article/001

var cxType = ""; Home News Local News State ... Ask the Expert Get professional answers to medical questions Illustrated Health Encyclopedia Important notice Ency. home Disease A Aarskog syndrome See images Overview Symptoms Treatment ... Prevention Definition: An inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. Causes and Risks Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome. Ency. home Disease A The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. For further information click here By using PalmBeachPost.com, you accept the terms of our visitor agreement. Please read it Contact PalmBeachPost.com

94. EMedicine - Rubinstein-Taybi Syndrome : Article By Zeljko P Mijuskovic, MD Faciodigitogenital syndrome (aarskog syndrome) Greig syndrome Larsen syndromePfeiffer syndrome SaethreChotzen syndrome Simpson-Golabi-Behmel syndrome http://www.emedicine.com/derm/topic711.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Rubinstein-Taybi Syndrome Last Updated: February 28, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: RTS, broad thumb-hallux syndrome, mental retardation, broad big toes, prominent nose, growth retardation, feeding difficulties, congenital heart disease, developmental abnormalities AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Zeljko P Mijuskovic, MD , Consulting Staff, Department of Dermatology and Venereology, Military Medical Academy, Belgrade, Serbia and Montenegro Coauthor(s): Djordjije Karadaglic, MD, DSc , Professor, School of Medicine, University of Podgorica, Podgorica, Serbia and Montenegro; Ljubomir Stojanov, MD, PhD , Director of Pediatric Clinic, Mother and Child Health Care Institute, Professor, Department of Metabolic and Genetic, University of Belgrade School of Medicine, Serbia and Montenegro; Zeljko P Mijuskovic, MD

95. Portal Toolkit Invalid Site URL 4 However, a retrospective analysis of 52 boys with aarskog syndrome seen overa 20 Boys aged 017 years with a diagnosis of aarskog syndrome were http://ppv.ovid.com/pt/re/adch/fulltext.00000740-199810000-00017.htm

Sorry, the URL specified, http://ppv.ovid.com:80/pt/re/adch/fulltext.00000740-199810000-00017.htm , is invalid. To go to site for "OvidPPV" please click here http://ppv.ovid.com To go to site for "Archives of Disease in Childhood" please click here http://www.lwwonline.com To go to the LWW Online site, please click here http://www.lwwonline.com Thank you

96. Medisurf - Medisurf's Categories aarskog syndrome / About aarskog syndrome. Alternative Names, Definition, Causes,Incidence, And Risk Factors. aarskog syndrome, IowaClinic http://www.medisurf.com/Category/category.asp?GENE_NO=D025

97. Genomic Organization Of The Faciogenital Dysplasia ( FGD1; Aarskog Syndrome) Gen Faciogenital dysplasia ( FGDY; MIM 305400), or aarskog syndrome, is an Xlinkeddevelopmental disorder that adversely affects the formation of specific http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/1193999.html

Genomic organization of the faciogenital dysplasia ( ; Aarskog syndrome) gene.Faciogenital dysplasia ( FGDY ; MIM 305400), or Aarskog syndrome, is an X-linked developmental disorder that adversely affects the formation of specific skeletal structures including elements of the face, the cervical vertebrae, and the distal extremities. , the gene responsible for faciogenital dysplasia, encodes a guanine nucleotide exchange factor that specifically activates , a member of the Rho (Ras homology) family of GTPases. By activating stimulates fibroblasts to form filopodia, cytoskeletal elements involved in cellular signaling and migration, and through also activates the stress-activated protein kinase/c-Jun N-terminal kinase signaling cascade, a pathway that regulates cell growth and differentiation. Here, we report a detailed characterization of the genomic organization of the gene. The gene is composed of 18 exons that range in size from 31 to 1240 bp. These exons span over 51 kb of genomic DNA within region Xp11.21.

98. Website Directory - Aarskog Syndrome A list of features for aarskog syndrome. National Library of Medicine Aarskogsyndrome, the synonyms, a summary and a list of the major features. http://www.shapeupamerica.com/search/directory/Conditions_and_Diseases/Genetic_D

Shape up Blog Shape Up Directory Add Your Site Health Directory Addictions Aging Alternative Animal ... Genetic Disorders > Aarskog Syndrome Sub-categories: None 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. Automated By: Website Promotion With Thanks: Hotels in York Online Degrees Web Site Hosting

99. Aarskog's Syndrome (www.whonamedit.com) aarskog s syndrome A familial syndrome combining short stature, abnormal facies,and genital and hand and foot abnormalities. Also known as aarskogScott http://www.whonamedit.com/synd.cfm/343.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Aarskog's syndrome Also known as: Aarskog-Scott syndrome Synonyms: Facial-digital-genital syndrome, facio-genito-digital syndrome, faciogenital dysplasia, shawl scrotum syndrome. Associated persons: Dagfinn Aarskog Charles I. Jr. Scott Description: A familial syndrome combining short stature, abnormal facies, and genital and hand and foot abnormalities. Characteristic features include a round face with a broad forehead, a broad nasal bridge with a short stubby nose and anteverted nostrils, hypertelorism, and a shawl (saddlebag) scrotum. There are also hand anomalies, and the cornea is usually enlarged. Males fully affected; female carriers sometimes exhibit phenotypical manifestations. The affected child has generally good health and developmental landmarks are within normal limits. In some cases, moderately impaired intelligence or early delay in motor performance, or both. Slow maturation from 3 years on. Bibliography: D. Aarskog:

100. Aarskog(-Scott) Syndrome aarskog(Scott) syndrome (FGD1) (Faciogenital Dysplasia, aarskog-Scottsyndrome Confirmation of Linkage to the Pericentromeric Region of the X http://www.bdid.com/aarskog.htm

HOME Aarskog(-Scott) Syndrome (FGD1) (Faciogenital Dysplasia, Faciodigitogenital Syndrome) Aarskog-Scott Syndrome: Confirmation of Linkage to the Pericentromeric Region of the X Chromosome Aarskog Syndrome Aarskog Syndrome Aarskog Syndrome Family Support Group ... aarskog@yahoogroups.com (mailing list) HOME

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