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Aarskog Syndrome: more detail

Genetics & Inherited Conditions: Aarskog Syndrome-galactosemia (Salem Health)
Aarskog syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Roger, MD Stevenson, 2005
Anomalies and Curiosities of Medicine by George M. Gould, 2010-08-02
Anomalies and Curiosities of Medicine by George M. Gould, Walter L. Pyle, 2010-08-02
Anomalies and Curiosities of Medicine by George M. Gould, 2010-08-02
Anomalies and Curiosities of Medicine by George M. Gould, Walter L. Pyle, 2010-06-20
Anomalies and Curiosities of Medicine by George M. Gould, Walter L. Pyle, 2010-09-20
Anomalies And Curiosities Of Medicine- George M. Gould, A.M., M.D. by A.M., M.D. George M. Gould, 2010-02-17

lists with details

Service Detail 12/19/2002 Lab
, Short staturesyndrome, mental and physicl problems, behavior problems; This group willProgram Name, aarskog syndrome Parents Support Group.
http://wwwprodapp.doa.louisiana.gov/services/user/ServiceDetail.cfm?servID=3689
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
Disease - Aarskog Syndrome - Detroit, Michigan
Disease aarskog syndrome - courtesy of Henry Ford Health System of Detroit, Michigan.
http://www.henryfordhealth.org/12800.cfm

Extractions: 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
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

Extractions: 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%.
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/

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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

Extractions: 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. 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. MAGIC Foundation for Children's Growth
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

Extractions: Information about national and local self-help organizations and support groups. 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. International network. Founded 1993. 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
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

Extractions: 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):
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
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

Extractions: Text Size A A A Front Page ... Genetic Disorders : Aarskog Syndrome 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).
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

Extractions: 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
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
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

Extractions: 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
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

Extractions: (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 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
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
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
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

Extractions: 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.
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
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

Extractions: 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 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.
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

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