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

81. Disease - Aarskog Syndrome - Detroit, Michigan
Disease aarskog syndrome - courtesy of Henry Ford Health System of Detroit, Michigan. Back to main Health Information page Disease - aarskog syndrome.
http://www.henryfordhealth.org/12800.cfm
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 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

82. Health Information
Back to Search aarskog syndrome (Disease). anomalies. Causes And Risk. aarskog syndrome is an xlinked recessive genetic disorder. This
http://www.ihs.org/body.cfm?id=504&action=detail&AEProductID=AdamEncy&AEArticleI

83. »»Reviews For Aarskog Syndrome««
aarskog syndrome Reviews. Related Subjects Genetic_Disorders More Pages aarskog syndrome Page 1 2. Search site for a Book Review.
http://www.booksunderreview.com/Health/Conditions_and_Diseases/Genetic_Disorders
Aarskog Syndrome Reviews
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More Pages: Aarskog Syndrome Page 1 Book reviews for "Aarskog Syndrome" sorted by average review score: Management of Genetic Syndromes Published in Hardcover by Wiley-Liss (15 January, 2001) Authors: Suzanne B. Cassidy and Judith E. Allanson Amazon base price:
Used price:
Buy one from zShops for: Average review score:
Excellent Educational Text "...a detailed practical guide for management of patients with genetic conditions...an asset to the bookshelf of any healthcare provider...also an excellent educational text..." (Journal of Genetic Counseling, Vol. 12, No. 4, August 2003) Useful Book "...quite useful to anyone...interested in a taste of what emerging technologies in genomics, proteomics, and bioinformatics can bring to bear on questions of potential importance in biomedical research." (American Journal of Human Genetics, Vol. 72, 2003) "a wealth of practical information" Cassidy and Allanson have assembled a talented group of authors to address the more common genetic disorders. The chapters are extremely well organized and each emphasizes not only diagnostic techniques and differential diagnosis, but also patient management. The generalist will find a wealth of practical information readily available and accessible. The clinical geneticist will discover and rediscover valuable "pearls" within this text. Edward R.B. McCabe, Department of Pediatrics, Mattel Children's Hospital at UCLA Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics, No 28)

84. SearchBug Directory: Health: Conditions_and_Diseases: Genetic_Disorders: Aarskog
Search aarskog syndrome, Human Genome Mapping Project http//www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?2 A list of features for aarskog syndrome.
http://www.searchbug.com/directory.aspx/Health/Conditions_and_Diseases/Genetic_D
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Web Pages - ranked by popularity Family Village - Aarskog Syndrome http://www.familyvillage.wisc.edu/lib_aars.htm Offers links for support and information concerning this disease. NORD: Aarskog Syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Aarskog%20Syndrome A look at the alternate names, a general discussion and resources. Pediatric Database http://www.icondata.com/health/pedbase/files/AARSKOGS.HTM A definition of Aarskog syndrome and the epidemiology, pathogenesis, clinical features, investigations and management. Human Genome Mapping Project http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?2 A list of features for Aarskog syndrome. National Library of Medicine http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome001.html Aarskog syndrome, the synonyms, a summary and a list of the major features. OMIM: National Center for Biotechnology Information http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?100050.cs

85. Search Health Information
Search Health Information, May 20, 2004. Back to Search aarskog syndrome (Disease). Causes And Risk. aarskog syndrome is an xlinked recessive genetic disorder.
http://www.iowahealth.org/body.cfm?id=692&action=detail&AEProductID=AdamEncy&AEA

86. Health Information
Back to Search. aarskog syndrome (Disease). anomalies. Causes And Risk. aarskog syndrome is an xlinked recessive genetic disorder. This
http://www.allenhospital.org/body.cfm?id=57&action=detail&AEProductID=AdamEncy&A

87. Aarskog Syndrome
Home Up . Click Here! aarskog syndrome. Click Here! Musice.net Just-recipes.net EnvyMag.com Scholarships-4u.com Shesearch.com
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88. Resource Library Find Information On Aarskog Syndrome At
Find information on aarskog syndrome at MerckSource. Learn more about Aarskog aarskog syndrome. Definition aarskog syndrome is an
http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

89. Aarskog Syndrome From Linkspider UK Health Directory
aarskog syndrome by Linkspider UK, aarskog syndrome links and aarskog syndrome topics from our Health directory. Helping you find
http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/AarskogSyn
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90. Fforwm-aaa Aarskog Syndrome
fforwmaaa aarskog syndrome. Michael Article fforwm-aaa aarskog syndrome. Oes gwybodaeth gan unrhyw un o r aelodau am aarskog syndrome. Rwyf
http://lists.becta.org.uk/pipermail/fforwm-aaa/2001-February/000071.html
fforwm-aaa Aarskog Syndrome Michael Davies llechryd at btinternet.com
Fri Feb 2 20:07:57 GMT 2001 Article: fforwm-aaa Aarskog Syndrome Oes gwybodaeth gan unrhyw un o'r aelodau am Aarskog Syndrome. Rwyf wedi bod yn chwilio am wybodaeth ar y We ond prin yw hyn. Mae'n debyg mae tua 100 o bobl sydd a'r Syndrome !!! Anyone having any information or knowledge of Aarskog Syndrome, and what teaching / learning implications it may have for a Primary school pupil. Michael Davies. fforwm-aaa Aarskog Syndrome Michael Davies llechryd at btinternet.com
Fri Feb 2 20:07:57 GMT 2001 More Information: More information about the fforwm-aaa mailing list 2003 Becta Return to top

91. Disease - Aarskog Syndrome, North Carolina
Disease aarskog syndrome, Online Medical Encyclopedia courtesy of University Health Systems of Eastern Carolina serving 29 counties in eastern North Carolina
http://www.uhseast.com/12114.cfm

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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 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. ZapMeta Directory > Health > Conditions And Diseases > Genetic Disorders > Aarsk
Web Sites in Category aarskog syndrome Display results 1 6 of 6 matches. •. Family Village - aarskog syndrome open this site in a new window Past Versions
http://www.zapmeta.com/search/meta/db.pl?dir=524970

93. Health Library -
groups. aarskog syndrome. Self Help Clearinghouse. aarskog syndrome Family Support Group. International network. Founded
http://myhealth.barnesjewish.org/library/healthguide/selfhelp/topic.asp?hwid=shc

94. NodeWorks - Genetic Disorders: Aarskog Syndrome
abnormalities. thumbnail, 1. Family Village aarskog syndrome - Offers links for support and information concerning this disease.
http://dir.nodeworks.com/Health/Conditions_and_Diseases/Genetic_Disorders/Aarsko
in entire NodeWorks Directory in Health in Genetic Disorders in ++ Aarskog Syndrome Top Health Genetic Disorders Aarskog Syndrome An inherited disease characterized by short stature , facial abnormalities, and genital abnormalities. 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.
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95. Aarskog's Syndrome (www.whonamedit.com)
aarskog s syndrome A familial syndrome combining short stature, abnormal facies, and genital and hand and foot abnormalities. aarskog s syndrome
http://www.whonamedit.com/synd.cfm/343.html

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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:

96. ORPHANET® : Aarskog, Syndrome D'
syndrome de aarskog
http://www.orpha.net/static/FR/aarskog.html
Accès à la base de données Orphanet
Aarskog, syndrome d'
Accès direct aux détails Résumé
(faciogenital dysplasia type 1) qui a été localisé en Xp11.21. Il a été trouvé qu'une mutation de ce gène pouvait être la cause d'un retard mental sans autres manifestations cliniques du syndrome d'Aarksog. Quelques cas familiaux faisant penser à une transmission autosomique récessive ont été rapportés. *Auteur : Dr S. Phadke (mars 2003)*. Signes de la maladie
  • AGE OSSEUX RETARD
  • DOIGTS COUP DE VENT CUBITAL
  • LEVRE INFERIEURE EVERSEE/TOMBANTE
  • MAINS COURTES/BRACHYDACTYLIE
  • NEZ COURT/NEZ PETIT
  • PETITE TAILLE / NANISME
  • PIED LARGE /PIED GRAND
  • SCROTUM EN CHALE
  • TRANSMISSION RECESSIVE LIEE A L'X
  • CLINODACTYLIE DU 5EME DOIGT
  • FRONT LARGE
  • HERNIE INGUINALE
  • HYPERLAXITE LIGAMENTAIRE
  • HYPERTELORISME
  • LYMPHOEDEME/OEDEME/LYMPHANGIOME
  • NARINES ANTEVERSEES
  • PECTUS EXCAVATUM
  • PHILTRUM LONG
  • PIED COURT / BRACHYDACTYLIE ORTEILS
  • PLI PALMAIRE TRANSVERSE
  • PTOSIS
  • RACINE DU NEZ PROEMINENTE
  • RETARD MENTAL MODERE / LEGER
  • SYNDACTYLIE DES DOIGTS
  • TESTICULE ECTOPIE/CRYPTORCHIDIE
  • CARDIOPATHIE CONGENITALE
  • FENTE LABIALE LATERALE
  • FENTE PALATINE
  • MEGALOCORNEE
Mise à jour : 01/06/2004
Accès à la base de données Orphanet

97. AARSKOG (syndrome D')

http://www.vulgaris-medical.net/texta/aarskog.htm
Aarskog (syndrome d') Affection associant les malformations suivantes :
  • insuffisance staturale (petite taille) malformation faciale élargissement de la base du nez emplacement anormal des testicules avec le repli du scrotum remontant au-dessus de la verge mains et pieds courts
Ce syndrome porte également le nom de syndrome facio-digito-génital.

98. This Is An Appendix To The Paper By G. M. Saifi H. S. Chandra 1999 An
This is an appendix to the paper by G. M. Saifi H. S. Chandra 1999 An apparent excess of sex and reproduction-related genes on the human X chromosome. congenita (Xq28) small/atrophic testes 50
http://rdre1.inktomi.com/click?u=http://citeseer.ist.psu.edu/463321.html&y=0

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