Aarskog Syndrome / Library / The Family Village Offers links for support and information concerning this disease.Category Health Conditions and Diseases aarskog syndromeLibrary A B. aarskog syndrome. Who to Contact. aarskog syndrome Parents SupportGroup 62 Robin Hill Lane Levittown, Pennsylvania, USA, 19055-1411 (215) 943-7131. http://www.familyvillage.wisc.edu/lib_aars.htm
Extractions: The Aarskog Syndrome Parents Support Group's purpose is to educate the public about the features and possible delays or learning difficulties that may or may not effect some of children with Aarskog Syndrome and to offer support by mail or phone when needed. The Support Group publishes a yearly newsletter, Aarskog News, for a minimal fee. The newsletter has a parent contact page for those wishing to get in touch with others who are affected by Aarskog. A new parent packet is available and contains past newsletters and articles that are on file. There is an article file containing writings by doctors on this syndrome from genetic books. There is a form available for those who wish to order specific articles. MAGIC Foundation for Children's Growth
Pediatric Database - Aarskog Syndrome aarskog syndrome. DEFINITION An xlinked recessive disorder characterized by short stature, and musculoskeletal and http://www.icondata.com/health/pedbase/files/AARSKOGS.HTM
AARSKOG SYNDROME A list of features for aarskog syndrome.Category Health Conditions and Diseases aarskog syndromeFeatures Listed For aarskog syndrome. McKusick 305400. Brachydactyly;Broad hallux; Dysplastic ears; Enamel abnormalities; Finger webbing; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?2
Extractions: We are two sisters who have a family that is affected by Aarskog Syndrome. We live close to each other in the North West of England and we have five children between us. Julie has two sons, Ian and Jack. Jacqui has two sons and a daughter, David, Ross and Louise. Julie's two sons have both been diagnosed as having Aarskog Syndrome. Jacqui's two sons also have this Syndrome, too. Jacqui's daughter, like Julie and Jacqui, is a carrier of the disorder. Our father and his identical twin have also been diagnosed as having the Syndrome. Our younger sister, Carole is also a carrier of the Syndrome. Our cousin Lesley, a carrier of the Syndrome has twin sons with the Syndrome. This Syndrome is a very rare genetic disorder and has many different features. Some of these features can cause problems for those affected by them. How can we help you? We want to help those people who have been diagnosed with this Syndrome in the U.K. to get more information regarding this Syndrome. We want to show people affected by this Syndrome in the U.K. how to get help from the right places. We want to better inform the Medical Profession in the U.K. regarding the problems encountered with this Syndrome. We would like to say thanks to Mrs. Shannon Caranci for help in producing some of the information on this website. Shannon runs an Aarskog Syndrome Parents Support Group in the U.S.A. She wants to hear from all families affected by the Syndrome. She has two sons with the Syndrome and conducts her own research into some of the features of the Syndrome. She has more information that you will find useful, so please get in touch with her at the following address.
Aarskog Syndrome aarskog syndrome, the synonyms, a summary and a list of the major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome001.html
Extractions: Syndrome Aarskog syndrome Synonyms Aarskog-Scott syndrome (ASS) Greig syndrome facial-digital-genital syndrome facio-digito-genital syndrome facio-genital dysplasia shawl scrotum syndrome Summary Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation. The phenotype varies with age and postpuberal males have only minor remnant manifestations of the prepuberal phenotype. Major Features Head and neck: A round face, broad forehead, hypoplastic ridging of the metopic sutures, and maxilla with relative mandibular prognathism are the main characteristics. Ears: Thickeners and fleshiness of the earlobes. Eyes: Hypertelorism, enlarged corneal diameter, downslanting palpebral fissures, blepharoptosis, and ophthalmoplegia. Mouth and oral structures: A curved depression below the lover lip may be associated. Abdomen: Prominent umbilicus is frequent.
Aarskog Syndrome aarskog syndrome information and links to national and international lay advocacy groups and support groups, clinics with genetic counselors and geneticists aarskog syndrome. aarskog syndrome Parent Support. 62 Robin Hill Lane http://www.kumc.edu/gec/support/aarskog.html
Extractions: Title: Chromosome 9P- Network Description: Provides information, parent-to-parent networking and technical support to parents of children with 9P- and other deletions of 9P, ring 9, mosaic, translocations, inverted 9P, etc. Facilitates research to further understand monosomy 9P. Information, referrals, phone support. Scope: International network Founded: Address: c/o Beverly Udell
NORD - Aarskog Syndrome A look at the alternate names, a general discussion and resources. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu
Aarskog Syndrome Parents Support Group (USA) aarskog syndrome Parents Support Group (USA), PLEASE contact Shannon She wants to hear from YOU. Mrs. Shannon Caranci 62 Robin Hill http://website.lineone.net/~gongex/newpage2.html
Extractions: The Aarskog Syndrome Parents Support Group's purpose is to educate the public about the features and possible delays or learning difficulties that may or may not affect some children with Aarskog Syndrome and to offer support by mail or phone when needed. The Support Group publishes a yearly newsletter, AARSKOG NEWS,for a minimal fee. The newsletter has a parent contact page for those wishing to get in touch with others who are affected by Aarskog. A new parent packet is available and contains past newsletters and articles that are on file. There is an article file containing writings by doctors on this syndrome from genetic books. There is a form available for those who wish to order specific articles.
MEDLINEplus Medical Encyclopedia: Aarskog Syndrome aarskog syndrome. anomalies. Causes, incidence, and risk factors Returnto top aarskog syndrome is an xlinked recessive genetic disorder. http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm
Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: The face Simian crease Pectus excavatum Definition Return to top Aarskog syndrome is an inherited disease characterized by short stature , facial abnormalities, musculoskeletal, and genital anomalies. Causes, incidence, and risk factors Return to top 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. Symptoms Return to top 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
Aarskog Syndrome aarskog syndrome Guide picks. aarskog syndrome Support Group (UK) Personalsite provided by a family affected by aarskog syndrome. http://rarediseases.about.com/cs/aarskogsyndrome/
Aarskog Syndrome Click Here! aarskog syndrome. aarskog syndrome is an extremely raregenetic disorder marked by distinctive structural abnormalities. http://www.stormloader.com/users/saibabaservs/Aarskog Syndrome.htm
Extractions: Aarskog Syndrome Aarskog Syndrome is an extremely rare genetic disorder marked by distinctive structural abnormalities. Major symptoms may include stunted growth, broad facial features, short broad hands and feet, genital abnormalities, and mild mental retardation Remedy Characteristics Symptoms Patient Worse by Patient Better by Baryta Carbonica Specially indicated in infancy and old age Suits scrofulous children, especially if they are backward mentally and physically, are dwarfish, do not grow and develop, have scrofulous ophthalmia, swollen abdomen, take cold easily, and then always have swollen tonsils Very averse to meeting strangers Loss of memory, mental weakness Irresolute Lost confidence in himself Confusion Bashful Childish; grief over trifles Diminished desire and premature impotence Enlarged prostate Testicles indurated Before menses, pain in stomach and small of back Menses scanty Talking in sleep; awakens frequently; feels too hot Twitching during sleep After warm food While thinking of symptoms From washing Lying on painful side Walking in open air Calcarea Phosphorica Anæmic children who are peevish, flabby, have cold extremities and feeble digestion
Extractions: An extremely rare x-linked recessive disorder characterized by short stature, facial abnormalities (broad facial features), genital anomalies, and occasional mental retardation. Also called: Aarskog-Scott syndrome (ASS), hypertelorism disorder, facial-digital-genital syndrome, facio-genital dysplasia Other topics of interest on SupportPath.com:
Aarskog Syndrome aarskog syndrome. aarskog syndrome Parent Support Group,. c/o ShannonCaranci, 62 Robin Hill Ln.,. Levittown, PA 190551411. (215) 943-7131. http://www.childhealthinfo.com/a/aarskog-syndrome.htm
A Index Just click on the item you want to learn more about. A. ABETA-LIPOPROTEINEMIA.aarskog syndrome. ABDOMINAL MIGRAINE. ABDUCTION/MISSING CHILDREN. ABORTION. http://www.childhealthinfo.com/a/
ORPHANET® : Aarskog Syndrome Translate this page ORPHANET. ORPHANET database access. aarskog syndrome. Direct accessto details Alias Faciodigitogenital syndrome. Home Page. http://www.orpha.net/static/GB/aarskog.html
Service Page - Pathologie Information DISEASE aarskog syndrome, Synonym(s) Faciodigitogenital syndrome,CIM Q87.1, AarskogScott syndrome or facio-digito-genital syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=915
