61. HONselect - Prader-Willi Syndrome English, praderwilli syndrome, - Labhart-Willi Syndrome - Royer Syndrome - Labhart-Willi-Prader-Fanconi Syndrome - Royer s Syndrome http://www.hon.ch/HONselect/RareDiseases/C10.271.650.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Prader-Willi Syndrome - Labhart-Willi Syndrome - Royer Syndrome - Labhart-Willi-Prader-Fanconi Syndrome - Royer's Syndrome - Labhart Willi Prader Fanconi Syndrome - Labhart Willi Syndrome Français: PRADER LABHARD WILLI, SYNDROME Deutsch: Prader-Willi-Syndrom - Geistige Behinderung - Labhart-Willi-Syndrom - Royer-Syndrom - Prader-Labhart-Willi-Fanconi-Syndrom Español: SINDROME DE PRADER-WILLI - SINDROME DE LABHART-WILLI - SINDROME DE ROYER Português: SINDROME DE PRADER-WILLI - SINDROME DE LABHART-WILLI - SINDROME DE ROYER HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français No Deutsch Yes Español Yes Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C10.271.650.html Last modified: Thu Jan 27 2005

62. Prader-Willi Syndrome,Cryptorchidism-Dwarfism-Subnormal Mentality praderwilli syndrome,Cryptorchidism-Dwarfism-Subnormal Mentality,HHHO,Hypogenital Dystrophy with Diabetic Tendency http://www.icomm.ca/geneinfo/praderwilli.htm

63. AllRefer Health - Prader-Willi Syndrome praderwilli syndrome information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups, http://health.allrefer.com/health/prader-willi-syndrome-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Prader-Willi Syndrome Prader-Willi Syndrome Definition Treatment Expectations or Prognosis Complications ... Go To Main Page Definition Prader-Willi syndrome is a congenital (present from birth) disease characterized by obesity decreased muscle tone , decreased mental capacity, and hypogonadism Hypotonia Prader-Willi is caused by the deletion of a gene on chromosome 15. For unkown reasons, only the copy of this gene on chromosome 15 that is received from the father is active. The maternal copy of this gene is turned off in all people. When there is a deletion of this gene on the copy received from the father, the disease occurs. This is because the patient is left with only the maternal copy which is inactive in all people. Signs of Prader-Willi may be seen at birth. New infants with the condition are often small and very

64. PRADER-WILLI SYNDROME : Contact A Family - For Families With Disabled Children: Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/p33.html

printer friendly PRADER-WILLI SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Prader-Willi: cryptorchidism- shortness of stature- obesity- subnormal mentality; Prader-Willi Labhart Prader-Willi syndrome is characterised by two phases. At birth and in infancy, hypotonia , sleepiness and feeding difficulties are usually present. Thereafter, hypotonia becomes less, feeding difficulties stop and hyperphagia (over eating) begins, usually between the ages of 2 and 4. Other features of Prader-Willi syndrome include: Hypogonadism (undescended testicles in males, reduced or lacking menstruation in females); mild to moderate intellectual disabilities; obesity (in the absence of food restrictions this appears to be universal). The syndrome often includes: short stature; developmental delay in walking and speech; obsessive behaviour; strabismus (squint); almond-shaped eyes; very small hands and feet; skin picking;

65. Prader-Willi Syndrome CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians, http://www.chclibrary.org/micromed/00061620.html

Main Search Index Definition Description Causes ... Resources Prader-Willi syndrome Definition Prader-Willi syndrome (PWS) is caused by a rare birth defect centered on chromosome 15. Characteristics of the syndrome include developmental delays and mental retardation , behavioral problems, and insatiable appetite leading to obesity . Affected individuals also experience incomplete sexual development, poor muscle tone, and short stature as adults. Description PWS occurs in 1 in 12,000 to 15,000 births and is regarded as the most common genetic cause of obesity. It affects both genders and all races. Although PWS arises from a genetic defect, it is not an inherited conditionit is a birth defect. The defect occurs spontaneously and specifically involves chromosome 15. A person normally inherits one copy of chromosome 15 from each parent. In PWS cases, the copy from the father either lacks a specific segment of DNA (70-75% of cases) or is missing altogether (25-30% of cases). If the father's chromosome 15 is absent, a person with PWS has two copies of the mother's chromosome 15. Although the individual has the proper number of chromosomes, inheriting two copies of a chromosome from one parent is an abnormal situation called uniparental disomy. If that parent is the mother, it is called maternal uniparental disomy. Virtually all parents of individuals with PWS have normal chromosomes; fewer than 2% of cases are linked to an inherited genetic mutation. In most cases, an error occurs during embryo development. This error leads to deletion of part of the father's chromosome 15 or to maternal uniparental disomy for chromosome 15. In either case, genes that should have been inherited from the father are missing and PWS develops.

66. Prader-Willi Syndrome Diagnostic criteria for praderwilli syndrome. prader-willi syndrome A Practical Guide (Resource Materials for Teachers) http://www.psychnet-uk.com/dsm_iv/prader_willi.htm

67. BBC - Health - Conditions - Prader-Willi Syndrome A guide to praderwilli syndrome. prader-willi syndrome (PWS) is a chromosomal disorder that results from disruption of chromosome 15. http://www.bbc.co.uk/health/conditions/praderwilli1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Prader-Willi syndrome Dr Trisha Macnair Prader-Willi syndrome (PWS) is a chromosomal disorder that results from disruption of chromosome 15. Symptoms include learning difficulties, obesity and behavioural problems. In this article Babies with PWS are underweight Problems with chromosome 15 Appetite must be controlled Further help Not My Fault I'm Fat What's it like to long to lose weight, but have no way of controlling what you eat, even if it kills you? A new BBC One programme, ' Not My Fault I'm Fat' looks at those with Prader-Willi syndrome, a disease for which there is no cure. Watch the programme on Monday 24th January 2005 at 9pm on BBC One. We all know the feeling of being hungry, but a good meal soon leaves us full and content. So imagine if, no matter how much you ate and how full your stomach was, you just couldn't stop thinking about food and the uncontrollable urge to eat never left you. Children with Prader-Willi syndrome (PWS) must suffer this constant insatiable hunger. Sometimes it drives them to the point where they will eat soil, paper or almost anything they can put in their mouths. This problem, due to disruption of a part of the brain called the hypothalamus which controls appetite, is just one of the symptoms of Prader-Willi syndrome, a chromosomal disorder that results from disruption of chromosome 15.

68. BBC - Health - Ask The Doctor - Prader-willi Syndrome Dr Trisha Macnair explains what praderwilli syndrome is. http://www.bbc.co.uk/health/ask_the_doctor/praderwilli.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Prader-willi syndrome My grandson, who's a happy little three-year-old, has recently been diagnosed with Prader-willi syndrome after putting on masses of weight (he went from 16kg/2.5 stone to 23kg/3.6 stone in just a few months). What is this syndrome? David Dr Trisha Macnair responds Prader-willi syndrome is a genetic problem caused by a fault in chromosome 15. It's quite unusual, occurring in about one in every 15,000 births, and it gets its strange name from the doctors who first described it in 1956 (Dr Prader, Dr Labhart and Dr Willi). Insatiable appetite and slow metabolism Rapid gain of large amounts of weight is a very common symptom of Prader-willi syndrome. This usually happens early in childhood, typically between the ages of two and five and is because of an insatiable appetite - the child is constantly hungry, preoccupied with food and 'chain-eats'. To make matters worse, their metabolism is only about 60 per cent of normal, so they require fewer calories than other children to avoid putting on weight. Excessive food intake rapidly leads to gross obesity. Very serious health problems may occur, and even early death, unless access to food is strictly controlled.

69. Prader-Willi Syndrome praderwilli syndrome is a rare genetic disorder, which affects development and growth. Characteristics may include short stature, skeletal abnormalities, http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Prader-Willi_synd

70. ANRED: Prader-Willi Syndrome We have just learned that our son has praderwilli syndrome. prader-willi syndrome is a congenital problem that affects one in every ten to fifteen http://www.anred.com/pw.html

Prader-Willi syndrome We have just learned that our son has Prader-Willi syndrome. Sometimes he acts bulimic. What's the difference? Prader-Willi syndrome is a congenital problem that affects one in every ten to fifteen thousand children. It includes the following characteristics: Mental retardation. Behavior problems, some of them severe Speech problems Muscle weakness Abnormal growth In some children, unpredictable rage attacks Constant hunger and an implacable drive to eat. Discussion People who have Prader-Willi syndrome will lie, cheat, and steal to get food. If their access to food is not controlled, they will gorge until they become so obese that they die. They do not vomit or purge in other ways as bulimics do. Paradoxically, Prader-Willi babies are usually thin and weak. They eat very poorly. When they do begin to eat, however, they do not stop. Sometimes Prader-Willi is mistakenly thought to be bulimia. Bulimia is a psychosomatic disorder. The person tries to solve problems and improve self-esteem by losing weight. The unhealthy weight loss behaviors hurt the body. Prader-Willi, on the other hand, is the result of a genetic defect. The person shows little concern about body image and gorges because the physiological brakes that control appetite and hunger are defective. Researchers have not yet discovered what causes the genetic defect that leads to Prader-Willi. It does not seem to run in families. It involves some sort of malfunctioning in the hypothalamus, a major control center in the brain.

71. Prader-Willi Syndrome - Wikipedia, The Free Encyclopedia praderwilli syndrome is a genetic disorder in which seven genes (or some subset prader-willi syndrome (PWS) is characterized by severe hypotonia and http://en.wikipedia.org/wiki/Prader-Willi_syndrome

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Prader-Willi syndrome From Wikipedia, the free encyclopedia. Prader-Willi syndrome Prader-Willi syndrome is a genetic disorder in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed ( chromosome 15q partial deletion ). It was identified in by Andrea Prader, Heinrich Willi, Alexis Labhart, and Guido Fanconi of Switzerland Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity , unless externally controlled. All patients have some degree of mental retardation and distinctive behavioral problems. Hypogonadism is present in both males and females. Short stature is common. Contents Diagnosis/testing Genetics References External links ... edit Diagnosis/testing Accurate consensus clinical diagnostic criteria exist, but the mainstay of diagnosis is genetic testing , specifically DNA-based methylation testing to detect the absence of the paternally contributed Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on chromosome 15q11.2-q13. Such testing detects over 99% of patients. Methylation-specific testing is important to confirm the diagnosis of PWS in all individuals, but especially those who are too young to manifest sufficient features to make the diagnosis on clinical grounds or in those individuals who have atypical findings.

72. Prader Willi Syndrome praderwilli syndrome is a genetic disorder characterized by diminished muscle tone (hypotonia), feeding difficulties, and failure to grow and gain weight http://www.bchealthguide.org/kbase/nord/nord14.htm

var hwPrint=1;var hwDocHWID="nord14";var hwDocTitle="Prader Willi Syndrome";var hwRank="1";var hwSectionHWID="nord14-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Prader Willi Syndrome Important It is possible that the main title of the report Prader Willi 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. Synonyms Cryptorchidism-Dwarfism-Subnormal Mentality HHHO Hypogenital Dystrophy with Diabetic Tendency Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome Labhart-Willi Syndrome Prader-Labhart-Willi Fancone Syndrome Willi-Prader Syndrome Disorder Subdivisions None General Discussion In most affected individuals, Prader-Willi syndrome appears to occur spontaneously (sporadically) for unknown reasons. However, some familial cases have been reported. Sporadic and familial cases are thought to be caused by deletion or disruption of certain adjacent genes on the long arm (q) of chromosome 15 (15q11-q13). Resources Prader-Willi Syndrome Association 5700 Midnight Pass Road Suite 6 Sarasota, FL 34242

73. The DRM WebWatcher: Prader-Willi Syndrome (PWS) A Disability Resources Monthly guide to the best online resources about praderwilli syndrome (PWS). http://www.disabilityresources.org/PWS.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Prader-Willi Syndrome (PWS) Updated 3/2004 A B C D ... About/Hint/Link Prader-Willi Syndrome (PWS) is a group of symptoms caused by a genetic defect in Chromosome 15. PWS occurs in about one of every 15,000 births. Symptoms of Prader-Willi Syndrome can include impaired body control, mental retardation, hypotonia during infancy, short stature, insatiable appetite beginning after infancy, scratching and skin picking, and behavior difficulties. Check these sites for more information. Prader-Willi Syndrome This technical page from GeneClinics includes in-depth clinical and genetic information. Prader-Willi Syndrome Association The Association's web site offers basic information about the syndrome, research news, personal stories and family support (including chat and message board), and links, as well as information about the organization, its chapters, and its publications. Prader-Willi Syndrome Association (UK) This British organization offers "An A to Z of PWS," genetic information, portraits of people with PWS, and information for people with PWS and for sibling. Related Subjects Growth Disorders Mental Retardation Rare Disorders Resources in your state (c) 1997-2005 Disability Resources, inc.

74. The Georgia Association For Prader-Willi Syndrome, Inc. This is the website for the Georgia Association for praderwilli syndrome, Inc. http://www.pwsaga.org/

3577-A Chamblee Tucker Road, PMB #173 Atlanta, Georgia 30341 Phone: (678) 534-0724· Toll Free in GA (866) 534-0724 Fax: (678) 534-0742 pwsaga@earthlink.net www.pwsaga.org All About PWSGA Announcements ... Contact Us Welcome to the Georgia Association for Prader-Willi Syndrome Website Prader-Willi Syndrome (PWS) is a birth defect first identified in 1956 by Swiss doctors A. Prader, H. Willi and A. Labhart. Although PWS is generally associated with an abnormality of chromosome 15, there are no known causes for the genetic defect that results in this lifelong condition. It is generally considered not to be an inherited condition; is estimated to occur randomly in about 1 in 12,000 to15,000 people; and it is found in people of both sexes and all races. It is one of the 10 most common conditions seen in genetics clinics and is the most common genetic cause of obesity that has been identified. PWSAGA will provide emotional support to families and caregivers, and nurture a sense of hope, strength and connection as we strive together to improve the quality of life of individuals with Prader-Willi syndrome. Our hope is that this website can be a resource for anyone who has a loved one with PWS or just wants to know how to better support the family of the person with PWS.

75. ► Prader-Willi Syndrome A medical encycopedia article on the topic prader-willi syndrome. http://www.umm.edu/ency/article/001605.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs UM Hospital for Children Home Medical Reference Encyclopedia (English) Toggle English Spanish Prader-Willi syndrome Overview Symptoms Treatment Prevention Definition: Prader-Willi syndrome is a congenital (present from birth) disease characterized by obesity decreased muscle tone , decreased mental capacity, and hypogonadism Causes, incidence, and risk factors: Prader-Willi is caused by the deletion of a gene on chromosome 15. For unkown reasons, only the copy of this gene on chromosome 15 that is received from the father is active. The maternal copy of this gene is turned off in all people. When there is a deletion of this gene on the copy received from the father, the disease occurs. This is because the patient is left with only the maternal copy which is inactive in all people. Signs of Prader-Willi may be seen at birth. New infants with the condition are often small and very floppy (hypotonic). Male infants may have undescended

76. Prader-Willi Syndrome - Eating Disorders Community Complete information about praderwilli syndrome, an uncommon inherited disorder characterized by emotional liability and an insatiable appetite which can http://www.healthyplace.com/Communities/Eating_Disorders/type_prader-willi_syndr

Beat Bulimia Concerned Counseling Eating Disorders Site Peace, Love and Hope Triumphant Journey ... send this page to a friend advertisement Prader-Willi Syndrome Prader-Willi syndrome (PWS) is an uncommon inherited disorder characterized by mental retardation, decreased muscle tone, short stature, emotional liability and an insatiable appetite which can lead to life-threatening obesity . The syndrome was first described in 1956 by Drs. Prader, Labhart, and Willi. PWS is caused by the absence of segment 11-13 on the long arm of the paternally derived chromosome 15. In 70-80% of PWS cases, the region is missing due to a deletion. Certain genes in this region are normally suppressed on the maternal chromosome, so, for normal development to occur, they must be expressed on the paternal chromosome. When these paternally derived genes are absent or disrupted, the PWS phenotype results. When this same segment is missing from the maternally derived chromosome 15, a completely different disease, Angelman syndrome, arises. This pattern of inheritance when expression of a gene depends on whether it is inherited from the mother or the father is called genomic imprinting. The mechanism of imprinting is uncertain, but, it may involve DNA methylation. Genes found in the PWS chromosomal region code for the small ribonucleoprotein N (SNRPN). SNRPN is involved in mRNA processing, an intermediate step between DNA transcripton and protein formation. A mouse model of PWS has been developed with a large deletion which includes the SNRPN region and the PWS 'imprinting centre' (IC) and shows a phenotype similar to infants with PWS. These and other molecular biology techniques may lead to a better understanding of PWS and the mechanisms of genomic imprinting.

77. Information About Prader-Willi Syndrome This page contains information about praderwilli syndrome. http://www.mamashealth.com/syndrome/prader.asp

Mamashealth.com Home Syndromes Pages Neuroleptic Malignant Nighttime Eating Patellofemoral Pain Piriformis ... Zollinger-Ellison Links More Syndromes Email Mama What is Prader-Willi Syndrome? Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. Prader-Willi syndrome is characterized in infancy by weak muscle tone, feeding difficulties, poor growth, and delayed development. In childhood, features of the disorder include excessive eating, obesity, short stature, mental retardation or learning disabilities, and behavioral problems. Some affected individuals also have unusually fair skin and light-colored hair. Symptoms of Prader-Willi Syndrome? The most common symptoms are: weak muscle tone in newborns undescended testicles in the male infant delayed motor development slow mental development very small hands and feet in comparison to body rapid weight gain with marked obesity insatiable appetite, food craving almond-shaped eyes skeletal (limb) abnormalities What Causes Prader-Willi Syndrome?

78. Prader-Willi Syndrome (800)253 7993. http//www.prader-willi.org. prader-willi syndrome Association(USA). 5700 Midnight Pass Rd., Sarasota, FL 34242. http://www.healthatoz.com/healthatoz/Atoz/ency/prader-willi_syndrome.jsp

79. Prader-Willi Syndrome praderwilli syndrome Association (USA). This US-based website provides information and support Notes for physicians on prader-willi syndrome (PWS or http://omni.ac.uk/browse/mesh/D011218.html

low graphics Prader-Willi Syndrome Prader-Willi Syndrome Prader-Willi Syndrome / genetics broader: Obesity other: Obesity, Morbid Prader-Willi Syndrome Prader-Willi Syndrome Association (USA) This US-based website provides information and support for health professionals, and families and carers of those affected by Prader-Willi syndrome - a congenital metabolic condition characterised by hypotonia, hypogonadism, hyperphagia, cognitive impairment and behavioural problems. There are sections devoted to medical and nursing issues, and a non-medical approach. Information on resources for carers, bulletin boards, research documentation, publications for sale and details of conferences and other events are also available here. United States Prader-Willi Syndrome Organizations, Nonprofit Prader-Willi Syndrome / genetics GeneReviews : Prader-Willi syndrome Notes for physicians on Prader-Willi Syndrome (PWS or Prader-Labhart-Willi Syndrome). This document provides a summary, and sections on diagnosis, full clinical description, management, molecular genetics and genetic counselling. This resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains bibliographical references and links to further resources. Written in 1998, and last reviewed in April 2004. Prader-Willi Syndrome / genetics Last modified: 09 Sep 2005

80. Prader-Willi Syndrome What information do you have on praderwilli syndrome ? The following information is from the prader-willi syndrome Association http://ericec.org/faq/praderwl.html

Prader-Willi Syndrome (updated March 2003) The ERIC Clearinghouse on Disabilities and Gifted Education (ERIC EC) The Council for Exceptional Children 1110 N. Glebe Rd. Arlington, VA 22201-5704 Toll Free: 1.800.328.0272 E-mail: ericec@cec.sped.org Internet: http://ericec.org What information do you have on Prader-Willi Syndrome ? The following information is from the Prader-Willi Syndrome Association: Prader-Willi Syndrome (PWS) is an uncommon, noninherited birth defect, lifelong and life-threatening, affecting all races and both sexes. Prevalence is estimated to be 1:12,000 to 15,000. Its characteristics include hypotonia, insatiable appetite, obesity if food intake is uncontrolled, hypogonadism and incomplete sexual development, developmental delays, variable degrees of mental retardation or functional retardation, short stature (adult), small hands and feet, mild dysmorphology, and behavior problems which can be severe. The cause of this condition is unclear. Approximately 70% have an interstitial deletion or other abnormal finding on chromosome 15, using high resolution (prometaphase) analysis. The remainder have two maternal chromosome 15s and no paternal 15 (maternal uniparental disomy). Diagnosis of infants with PWS is difficult. Newborns are hypotonic, lethargic, exhibit genital hypoplasia, and often require gavage or other special feeding techniques. Prenatally, fetal movement is decreased. Diagnosis in adults is more certain if classic characteristics are present: short stature, small hands and feet, CNS dysfunction, underdeveloped sexual characteristics, poor large muscle strength.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 115    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20