1. Aarskog Syndrome / Library / The Family Village Offers links for support and information concerning this disease.Category Health Conditions and Diseases aarskog syndrome......Library 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

Aarskog Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Aarskog Syndrome" Who to Contact Aarskog Syndrome Parents Support Group 62 Robin Hill Lane Levittown, Pennsylvania, USA, 19055-1411 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 1327 North Harlem Avenue Oak Park, IL 60302

2. 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

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 6/12/94 AARSKOG SYNDROME DEFINITION: An x-linked recessive disorder characterized by short stature, and musculoskeletal and genital anomalies. EPIDEMIOLOGY: incidence: rare (100 cases worldwide) age of onset: newborn risk factors: familial - x-linked recessive chrom.#: Xq13 gene: ? PATHOGENESIS: CLINICAL FEATURES: 1. Musculoskeletal Manifestations 1. Short Stature (90%) may present prenatally or within the first 1-3 years of life 2. Facies hypertelorism (90%) small nose with anteverted nares (90%) broad philtrum (85%) broad nasal bridge (85%) abnormally-shaped auricles (75%) widow's peak (60%) ptosis (50%) others: maxillary hypoplasia, hypodontia, retarded dental eruption, orthodontic problems 3. Limbs brachyclinodactyly (80%) broad feet with bulbous toes (75%) simian crease (70%) syndactyly (60%) 2. Genitourinary Manifestations 'shawl' scrotum (80%) cryptorchidism (75%) inguinal hernia (60%) 3. Ophthalmologic Manifestations hyperopic astigmatism large corneas ophthalmoplegia strabismus 4. Other Manifestations

3. AARSKOG SYNDROME A list of features for aarskog syndrome.Category Health Conditions and Diseases aarskog syndrome......Features 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

4. Aarskog Syndrome Support Group (U.K.) Useful information for those affected by this very rare META NAME= http://website.lineone.net/~gongex

Advertisement We subscribe to the HONcode principles. Verify here Aarskog Syndrome Support Group (U.K.) Julie and Jacqui Who are we? 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. What is Aarskog 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.

5. 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

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record 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.

6. 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

Aarskog syndrome Aarskog Syndrome Parent Support 62 Robin Hill Lane Levittown, PA 19055-1411 Phone:(215) 943-7131 Contact: Shannon Caranci MAGIC Foundation for Children's Growth - Aarskog Division 62 Robin Hill Lane Levittown, PA 19055 Phone:(215) 943-7131 or (800) 362-4423 Contact: Shannon Caranci Aarskog Syndrome Support Group (U.K.) 57 Falkland Road Wallasey, Merseyside, CH44 8EW E-mail: aarskoginfo@yahoo.com Web site: http://website.lineone.net/~gongex/index.html Also See: National organizations information on genetic conditions or birth defects Aarskog Syndrome , from Pediatric Database Clinical Synopsis of Aarskog Syndrome , OMIM (Online Mendelian Inheritance in Man) Medline Information , NIH To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised March 1, 2001 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

7. Clinical Synopsis For OMIM ENTRY 100050 Clinical synopsis for aarskog syndrome. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?100050.cs

8. Aarskog Syndrome Family Support GroupAarskog Syndrome Family Support Group Mutua People served Parents of children with aarskog syndrome. Services provided Public awareness, support, articles, and http://www.medhelp.org/amshc/amshc231.htm

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 675 N. Round Table Dr. Las Vegas, Nevada, 89110 United States Telephone: Fax: Email: beverly.udell@9pminus.org Web Address: http://www.9pminus.org This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org Updated: 02/2003

9. 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

10. The Family Village / Library / Specific Diagnoses (A - B) A B Specific Diagnoses (A - B). A. aarskog syndrome; Achondroplasia;Achromatopsia; Acidemia, Organic See Organic Acidemia; Acid http://www.familyvillage.wisc.edu/card_ab.htm

Specific Diagnoses (A - B) A Aarskog Syndrome Achondroplasia Achromatopsia Acidemia, Organic See Organic Acidemia Acid Maltase Deficiency See Glycogen Storage Disease Acoustic Neuroma Addison Disease Also see: See Adrenal Disorders Adrenal Disorders Adrenal Hyperplasia Adrenoleukodystrophy (ALD) See Leukodystrophy Agenesis of Corpus Callosum Agyria See Lissencephaly Aicardi Syndrome AIDS See Aquired Immune Deficiency Syndrome (AIDS) Alagille Syndrome Alexander Disease Allergy ... Amyotrophic Lateral Sclerosis Anderson Disease See Glycogen Storage Disease Anemia, Aplastic Anemia, Cooley's See Thalassemia Anemia, Fanconi Anencephaly Angelman Syndrome ... Aquired Immune Deficiency Syndrome (AIDS) Argininemia See Urea Cycle Disorders Argininosuccinic Aciduria Deficiency See Urea Cycle Disorders Arnold-Chiari Malformation Arthritis Arthrogryposis Multiplex Congenital ... Autoimmune Disorders Avascular Necrosis See Osteonecrosis B Balance and Dizziness Disorders Batten Disease Beckwith-Wiedemann Syndrome Behcet's Disease Benign Congental Hypotonia See Hypotonia Benign Essential Blepharospasm Biliary Atresia Birth Defects ... Brachial Plexus / Erb's Palsy Brachmann de Lange Syndrome See Cornelia de Lange Syndrome Brain Injury Brain Stem Malformation See Arnold-Chiari Malformation Brain Tumors Bourneville's Disease See Tuberous Sclerosis Bowel Dysfunction Burns Back to [ Specific Diagnoses Card Catalog A - B C - D E - F ... Information Last updated Monday, July 01, 2002 by

11. 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

Aarskog Syndrome Parents Support Group (USA) PLEASE contact Shannon - She wants to hear from YOU Mrs. Shannon Caranci 62 Robin Hill Lane Levittown PA 19055-1411 USA Telephone # 215-943-7131 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. More Details : Aarskog Syndrome Parents Support Group Back to Home Page

12. Genetic Conditions / Rare Conditions Information Site U V W X Y Z. Revised January 7, 2003 aarskog syndrome;Achromatopsia; Acoustic neuroma (and benign cranial nerve tumors); http://www.kumc.edu/gec/support/groups.html

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay Advocacy Groups, Support Groups, Information on Genetic Conditions and Birth Defects for Professionals, Educators and Individuals · National and International Organizations · Categories Genetic Counselors and Geneticists Children and Teen Sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

13. 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

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Aarskog syndrome Contents of this page: Illustrations Definition Causes, incidence, and risk factors Symptoms ... Prevention Illustrations 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

14. 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/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Aarskog Syndrome Guide picks A genetic disorder marked by distinctive physical abnormalities. Aarskog Syndrome Support Group (U.K.) Personal site provided by a family affected by Aarskog syndrome. Aarskog Syndrome support groups List of support groups for Aarskog syndrome. NORD: Aarskog Syndrome Brief definition of the disorder from the National Organization for Rare Disorders (U.S.). Orphanet: Aarskog Syndrome Medical description of the disorder from Orphanet. HealthCentral: Aarskog Syndrome Definition of the syndrome, from adam.com. Email this page! Sponsored Links Need Health Insurance? Free health insurance quotes. Quote all the major plans. http://healthaquote.com/

15. 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

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

16. SupportPath.com: Aarskog Syndrome SupportPath.com, aarskog syndrome. None Listed. Clinical Trials Researchon aarskog syndrome None Listed. Miscellaneous Links http://www.supportpath.com/sl_a/aarskog_syndrome.htm

Aarskog Syndrome 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: Rare Disorders About Us Add-A-Link Email ... here Online Communities / Message Boards... aarskog · AARSKOG SYNDROME Website: http://groups.yahoo.com/group/aarskog/ Description: This Yahoo Group is affiliated with the International Rare Disease Support Network (IRDSN) . Registration is required to post. Date Added: 07/12/2002 Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. None Listed Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... None Listed National / International Organizations...

17. 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

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

18. 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/

A B C D ... Z Just click on the item you want to learn more about. A A-BETA-LIPOPROTEINEMIA AARSKOG SYNDROME ABDOMINAL MIGRAINE ABDUCTION/MISSING CHILDREN ... MoreInfo@ChildHealthInfo.com

19. 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

ORPHANET database access Aarskog syndrome Direct access to details Alias : Home Page

20. 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

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