161. Fragile X Syndrome A Policy Statement from the American College of Medical Genetics. http://www.faseb.org/genetics/acmg/pol-16.htm

Policy Statement: American College of Medical Genetics Fragile X Syndrome: Diagnostic and Carrier Testing Introduction Fragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females. Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit a similar, but usually less severe phenotype. The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile site at Xq27.3 (FRAXA) induced in cell culture under conditions of folate deprivation. Cytogenetic analysis of metaphase spreads demonstrates the presence of the fragile site in less than 60% of cells in most affected individuals. The cytogenetic test has limitations, especially in testing for carrier status, and it exhibits a high degree of variability between individuals and laboratories. Also, interpretation of the cytogenetic test for fragile X syndrome is complicated by the presence of other fragile sites in the same region of the X chromosome (FRAXD, FRAXE, and FRAXF). Males and females carrying a premutation are unaffected. Male carriers are referred to as "normal transmitting" males, and they pass on the mutation, relatively unchanged in size, to all of their daughters. These daughters are unaffected, but are at risk of having affected offspring. Variable clinical severity is observed in both sexes. Most, but not all, males with a full mutation are mentally retarded and show typical physical ant behavioral features. Of females with a full mutation, approximately one-third are of normal intelligence, one-third are of borderline intelligence, and one-third are mentally retarded.

162. Cushing's Syndrome Questions and answers about this disease. Covers symptoms, treatment, diagnosis, and research. From NIDDK. http://www.niddk.nih.gov/health/endo/pubs/cushings/cushings.htm

Introduction What Are the Symptoms? What Causes Cushing's Syndrome? How Is Cushing's Syndrome Diagnosed? ... What Other Resources Are Available? Introduction Cushing's syndrome is a hormonal disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. Sometimes called "hypercortisolism," it is relatively rare and most commonly affects adults aged 20 to 50. An estimated 10 to 15 of every million people are affected each year. What Are the Symptoms? Symptoms vary, but most people have upper body obesity, rounded face, increased fat around the neck, and thinning arms and legs. Children tend to be obese with slowed growth rates. Other symptoms appear in the skin, which becomes fragile and thin. It bruises easily and heals poorly. Purplish pink stretch marks may appear on the abdomen, thighs, buttocks, arms and breasts. The bones are weakened, and routine activities such as bending, lifting or rising from a chair may lead to backaches, rib and spinal column fractures. Most people have severe fatigue, weak muscles, high blood pressure and high blood sugar. Irritability, anxiety and depression are common.

163. Badbelly 's Home Page Jackie's personal story about having Cyclic Vomiting syndrome. Detailed and powerful. http://www.geocities.com/Heartland/Flats/4202/

The disease in Disguise, Cyclic Vomiting Syndrome Hi my name is Jackie and this is my story. I hope that this story will help you or someone you know that has had to deal with Cyclic Vomiting Syndrome. After hearing this over and over I decided that no one needed to know when I got sick with the "flu." So I turned myself into a perfectionist; At age 10 the episodes became less frequent every few weeks or so. Maybe I was outgrowing this anxious phase. My throat had time to heal before the next episode. Sometimes I had no esophageal bleeding whatsoever during an episode! The "bad episodes lasted 2-4 days and were far apart because I was a "healthy kid" when it came to viruses. Life seemed to be getting better. At 11 I caught Lyme's disease and went into three day stints of vomiting and three days after the last vomiting bout I would begin again. Vomiting is of course a symptom of Lyme's diseae. So when my mum told the doctor that I had been vomiting, he wasn't surprised. I don't think that he understood that this was not plain old vomiting, but this was vomiting in exact increments of time, and to the point of exhaustion,and dehydration. As the Lyme's disesase began to clear, so did the three day stints of vomiting. I again went to my normal vomiting every few weeks with the peak only lasting between 6 and 24 hours.

164. Ooops Wrong Planet Syndrome Links, articles, and information on Asperger's syndrome. http://www.isn.net/~jypsy

165. Krukenbergs Spindle And Pigment Dispersion Syndrome - Krukenbergs-spindle.co.uk Specific information about diagnosis and treatment of these disorders. http://www.krukenbergs-spindle.co.uk

Krukenberg's Spindle Pigment Dispersion What can be done ... E-mail Krukenberg's Spindle and Pigment Dispersion Syndrome Welcome to the site designed specifically for people that have been diagnosed with Krukenberg's Spindle or Pigment Dispersion Syndrome. In 2002 I was diagnosed with Krukenberg's Spindle. I had never heard of it before, so I tried to find out exactly what it was on the internet. Initially, all I could find were veterinarians case notes, about a cat that had the same thing! Now, three years later, there is more information available online, but the sites seem a little cold and impersonal, written by professionals for professionals. So, here on these pages I am going to try to explain the following: what Krukenberg's Spindle and Pigment Dispersion Syndrome are, in non-scientific language; what can be done If you have been diagnosed with Krukenberg's Spindle, or Pigment Dispersion Syndrome, please share your experiences on here - remember, a problem shared is a problem halved! It could mean that we inadvertently help by finding a common denominator that we all share, something that no-one would have dreamed could have had a connection! If you are an opthalmologist, any help you can provide will be gratefully accepted - there are many questions that at present we have no answers to!

166. SIDS Network Home Page Offering information and related topics. http://sids-network.org/

Help ensure that the Global Internet services of the SIDS Network continue to grow! Donate directly to the SIDS Network securely with a major credit card Donate your used car, truck, boat or RV to the SIDS Network, Inc. and receive a tax deduction Other ways to help can be found here Sudden Infant Death Syndrome and Other Infant Death (SIDS/OID) Information Web Site For the month of September the SIDS Information Web Site is sponsored Kaitlyn Rose Palumbo Other SIDS Network web Site sponsors can be seen here Information about sponsorship of the web site can be found at: http://sids-network.org/ your_donation_can_help_the_sids_.htm SIDS Network Web Site Table of Contents (updated 9/7/05) Search the SIDS Information Web Site The SIDS Network Internet Services are partially funded by CJ Foundation for SIDS Participate in the SIDS Stamp project! Participate in the Maternal Observations and Memories of Stillbirth (MOMS) study! There have been 10,795,284 pages viewed

167. The Hypermobility Syndrome Association - Hypermobility Syndrome, Bjhs, Beighton, Information and articles on the Hypermobility syndrome. Details of current research, FAQ, discussion boards and a section for kids and teens. http://www.hypermobility.org/

HMSA Membership Medical Information Pain and Hypermobility HMS Resources ... Fundraising To the HMSA web site. Who are we: The Hypermobility Syndrome Association (HMSA) is a charity run by and for people diagnosed with the Hypermobility Syndrome (HMS). What we do: The HMSA aims to provide support and information to those affected by the Syndrome and to promote knowledge and understanding within the medical community and the public at large. We hope to assist sufferers to come to terms with the HMS and the distress that it can cause. The severity of the effects of HMS varies with the individual: some have few symptoms others are severely affected. HMS is an 'invisible illness' and because of this we can look well to the outside world but are often in severe pain. Moreover the nature of hypermobile joints combined with frail tissues means that we are prone to injury when performing simple everyday tasks. This opens us to skepticism, particularly by those in the medical profession who know little about HMS. The pain, stress and frustration can lead to depression: thus depression can often be mistaken as the cause of the illness, not a result of it. We work closely with those in the medical community with a special interest in HMS. Through our newsletters we aim to provide members with updates on the developments and issues within the medical community. As patients we need as much current and useful information as is available.

168. XXY List Web Page A great support, bonding, and resource site for people with Klinefelter's syndrome. http://www.globalwebsol.com/xxy/

Please Bookmark this Web Site! Welcome to the XXY list members home page! ** Friends..............You have become my PARACHUTE ** Charles Plum, a U.S. Naval Academy graduate, was a jet fighter pilot in Vietnam. After 75 combat missions, his plane was destroyed by a surface-to-air missile. Plumb ejected and parachuted into enemy hands. He was captured and spent six years in a Communist prison. He survived that ordeal and now lectures about lessons learned from that experience. One day, when Plumb and his wife were sitting in a restaurant, a man at another table came up and said, "You're Plumb! You flew jet fighters in Vietnam from the aircraft carrier Kitty Hawk. You were shot down!" "How in the world did you know that?" asked Plumb. "I packed your parachute," the man replied. Plumb gasped in surprise and gratitude. The man pumped his hand and said, "I guess it worked!" Plumb assured him, "It sure did if your chute hadn't worked, I wouldn't be here today." Plumb couldn't sleep that night, thinking about that man. Plumb says, "I kept wondering what he might have looked like in a Navy uniform a Dixie cup hat, a bib in the back, and bell bottom trousers. I wondered how many times I might have passed him on the Kitty Hawk. I wondered how many times I might have seen him and not even said 'Good morning, how are you,' or anything because, you see, I was a fighter pilot and he was just a sailor."

169. Online Genetic Syndrome Support Groups Sites are listed alphabetically by disease/condition. http://members.aol.com/dnacutter/sgroup.htm

Directory of Online Genetic Support Groups This site has move to www.mostgene.org

170. Angelica And Gabriel's In-site A mothers story to diagnose this disorder before a team of doctors could. http://www.chariot.net.au/~dna/angelica.html

This site is best viewed at 1024 by 768 monitor screen resolution Only a few days old. What a challenging road this little Angel was to travel. Not because she's mine, but she truly is among one of the most beautiful newborn child that I had ever set my eyes upon! May you light up the WWW with your beauty, Angelica! No flash used when photo was taken ] The First Sound Look of an Angel The Last Sound The Moral of the Story ... If You Made it this far down, then you well deserve a Gift shared from my Heart Here I share my Daughter Angelica's life story. Sharing this here, has helped to close certain doors in my mind, which for some years, were swinging in the wild winds' of life. However, I do hope that this story may help others who come across and take the time to read it here. I would take the opportunely to ask those of you who may be grieving the loss of loved ones, or who may be feeling pain or helplessness due to tragedy, to forward your story on the WWW, or, write it down on paper at least. One may shed tears while recalling wonderful and or painful memories. Reflect upon this, that tears are nature's way of washing away the pain, while the positive attributes shared with those whom you Love and cherish, are reinforced. The First Sound...

171. Joubert Syndrome Foundation & Related Cerebellar Disorders Organization, conferences and contact details. FAQs about the disease, information center and resources. http://www.joubertfoundation.com/

What is Joubert Syndrome? Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by agenesis (absence) or hypoplasia (underdeveloped) of the part of the brain called the cerebellar vermis and a malformed brain stem. The most common features of the disorder include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. We are celebrating our 13th year of providing information about the disorder to families all over the world! newsletter , and a biennial conference This website is funded entirely by private contributions made by members and friends of the foundation. syndrome, joubert syndrome, joubert, joubert disease, joubert's syndrome, jobair syndrome, what is joubert syndrome, jobert, jouberts, joubert syndrome treatment, joubert syndrome prognosis, joubert syndrome research, cerebellum, cerebellar, Arima, Dekaban, Senior-Loken, Varadi, COACH, cerebellar hypoplasia

172. The Official Website Of The Alagille Syndrome Alliance Worldwide support network for people who care about people with alagille syndrome. http://www.alagille.org/

d.write(""); The Alagille Syndrome Alliance Welcome to the offical website of the Alagille Syndrome Alliance! We are glad you found us. Take a look around the site and please sign our guestbook. Kaylee's spirit shines brightly At 2 weeks old Kaylee Wood was admitted to a local hospital. She had not gained any weight and was also very jaundiced... more Great times at Symposium 2005 We took a lot of great pictures at the symposium this year. Take a look at the weekend's activities... more Join the AGS chat Come join the fun with our host, Joe Anderson! Our chatroom sessions are now utilizing the C.L.A.S.S. server. Access the chatroom from our chat home page ( AGS chat home page This week's chat session: Date: Sunday September 18th Time: 6 p.m. Pacific Standard Time (PST) Hosted by: Joe Anderson (AGS Director). Next week's chat session: Date: Sunday September 25th Time: 6 p.m. Pacific Standard Time (PST) Hosted by: Joe Anderson (AGS Director). AGS in the Classroom Booklet View and print the AGS in the classroom booklet now! CAUTION!!

173. Tourette Syndrome Association, Inc. Develops and disseminates educational materials; stimulates support for research; apprises members of rights, services, and benefits provided by government and other organizations http://www.tsa-usa.org

Tourette Syndrome Association, Inc. NEED A NOFRAMES SECTION HERE.

174. MedlinePlus Medical Encyclopedia: Scalded Skin Syndrome Features cause, signs, symptoms, complications, and treatment. http://www.nlm.nih.gov/medlineplus/ency/article/001352.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Scalded skin syndrome Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names Ritter disease; Staphylococcal scalded skin syndrome (SSS) Definition Return to top Scalded skin syndrome is a skin infection characterized by damage to the skin with marked shedding (exfoliation). It usually affects infants and children under the age of 5. Causes, incidence, and risk factors Return to top Scalded skin syndrome is caused by infection with certain strains of a bacteria called staphylococcus. During the infection, the staphylococci produce a poison (exotoxin) that is responsible for the skin damage. Onset of the illness may be heralded by fever and skin tenderness. The effects of the toxin first produces reddening of the skin . Fluid collects beneath the skin loosening it. Subsequently, light rubbing of the skin may pull away large sheets of skin leaving a raw red base (this effect is called the Nikolsky sign). These bare areas dry out and crust over. It is found most commonly in infants and very young children.

175. Who Has A Disability? PostPolio syndrome, CFS, progressive long term disabilities, helpful hints and links, information on SS Guidelines, equipment options, accessibility solutions, handicap lifestyle changes, family awareness and support. http://www.fortunecity.com/meltingpot/grove/1105

var TlxPgNm='index'; Come in, Relax,... Let's talk....... Who has a Disability? Index This trailor was our original solution to getting around with two scooters. We have since then bought a Ford F150 and replaced the tailgate with a commercial quality electric lift usually used by agencies like the Sheriff's Department. We will supply a picture as soon as we can borrow a camera. We had many reason's for making this our choice after looking into all the other ramps, vans, lifts available on the market. If you have any questions, please do not hesitate to drop us a note. Welcome to the Who has a Disability? web site. Let us explore the question "Who has a Disability" with an open mind and heart. Is someone disabled only if you can see that they have a physical limitation? Is someone disabled by something you can not readily see or perceive? If you take a very broad brush and label anyone who has a limitation of any kind, either mentally, physically or emotionally, then everyone is disabled on some level. Why do some people feel uncomfortable if they see someone using a "tool" to help them walk or get from point A to point B? Everyone uses tools to get a job done, don't they? If someone has a physical limitation, does that automatically mean they have a less than average mental capacity? Who and what defines an individual's worth to society? We hope to explore these questions and many more with you and will look forward to hearing your thoughts on the subjects as time goes on.

176. PPOD SYNDROME - PELVIC PAIN & ORGANIC DYSFUNCTION Information about the diagnosis and treatment of chronic pelvic pain and disturbances of bladder, bowel, gynecologic and sexual function. http://www.ppodsyndrome.com

MECHANICALLY INDUCED PELVIC PAIN AND ORGANIC DYSFUNCTION Pelvic pain and organic dysfunction (PPOD), is the phrase given to a disorder characterized by various combinations of symptoms of pelvic pain and disorders of bladder, bowel, gynecologic and sexual function. Mechanically Induced PPOD Syndrome is a commonly overlooked cause of these disorders. This site contains information about the symptoms and treatment of PPOD. Contact Information Telephone FAX Postal address Pelvic Pain and Organic Dysfunction Treatment Center P.O. Box 103, Suttons Bay, MI 49682 Electronic mail General Information: info@ppodsyndrome.com Webmaster: tom@wetherbees.com [ Home ] What is PPOD Treatment Case Reports FAQs ... Letter to Profession Send mail to info@ppodsyndrome.com with questions or comments about this web site.

177. TNS Sofres - Sondages, Opinion, Etudes - Les Généralistes Et Le Syndrome Méta des analyses et des résultats par thème et par cible http://www.tns-sofres.com/etudes/sante/270204_syndmetabolique.htm

Plus d'informations : Michel MURINO Tél : 33 (0)1 40 92 45 15 michel.murino@tns-sofres.com Voir aussi... Nom expéditeur : Email expéditeur : Nom destinataire : Email destinataire : et par cible

178. NORD - National Organization For Rare Disorders, Inc. A general discussion, the synonyms and further resources are offered. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tolosa Hunt S

179. Le Syndrome D'Angelman Informations sur cet accident g©n©tique orphelin sur le chromosome 15 touchant une naissance sur 20000. Par une famille de malade. http://www.angelman.ch/

Bonjour, J'ai créé ce site pour notre fille, Audrey, mais aussi pour toutes les personnes touchées, confrontées ou s'intéressant au syndrome d'Angelman. Je vais vous parler d'Audrey, bien sûr, mais avant tout et surtout, du syndrome sous toutes ses formes : l'origine, l'aspect génétique, neurologique, épileptique, le développement, la vie de famille, la communication, etc... Bonne visite ENTREZ ICI...

180. Wolff-Parkinson-White Syndrome American Heart Association looks at this disease along with the symptoms and treatment. http://216.185.112.5/presenter.jhtml?identifier=4785

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