81. Kennedy Krieger Institute George T. Capone, MD Rehabilitation Unit. Research Summary down syndrome is a genetic disorderthat occurs in approximately 1 in 800 live births. It is http://www.kennedykrieger.org/kki/kki_staff.jsp?pid=1037

82. Genetic Conditions / Rare Conditions Information Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professional Category Health Conditions and Diseases genetic Disorders...... and individuals, National and International organizations · Categories · geneticCounselors and 18, tetrasomy 18p, Edwards), 20, 21 (down syndrome, trisomy 21 http://www.kumc.edu/gec/support/

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /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 Achondroplasia 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 / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders 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

83. UNSW Embryo- Trisomy 21 (Down Syndrome) genetic, dysmorphic or metabolic disorders or a family history of serious geneticdisorder; PA) 94090; New triple screen test for down syndrome combined urine http://anatomy.med.unsw.edu.au/cbl/embryo/Defect/page21.htm

UNSW Embryology Abnormal Development- Trisomy 21 (Down Syndrome) Embryology Home Page Page WWW Page Links: Introduction Screening Ultrasound Chorionic Villus Sampling (CVS) ... References Other Pages: Page 2 Abnormalities OMIM Self Assessment Questions ... WWW Links Introduction The frequency of trisomy 21 in the population is approximately 1 in 650 to 1,000 live births. The image on the right showns isolated chromosomes from a male trisomy 21 (red arrow shows extra chromosome 21). Recent attention has focussed on screening for Down's syndrome (mainly in terms of cost and efficiency) during fetal life with over 350 articles in the medical literature in just the past five years. There is also a high correlation of increased occurance with an increase in maternal age. (

84. Ask NOAH About: Genetic Disorders and Medications (Pharmacogenetics) Living with genetic Diseases. OtoRenal (BOR)syndrome Cancer genetics Cystic Fibrosis Diabetes down syndrome Ehlers-Danlos http://www.noah-health.org/english/illness/genetic_diseases/geneticdis.html

Ask NOAH About: Genetic Disorders Ask NOAH About: Genetic Disorders is a work-in-progess on diseases that have a known or suspected genetic origin. This page will attempt to keep pace with the the Human Genome Project's published breakthoughs on genetic medicine. If the genetic disorder you need information on is not listed here, please try the NOAH search engine . For information on basic genetics, please visit Ask NOAH About: Genetics, Genomes, Cell Biology, and Cloning What are Genetic Diseases? Genetics Basics The Basics Glossaries Children ... Living with Genetic Diseases Specific Conditions Achromatopsia Adrenoleukodystrophy Aicardi Syndrome Albinism/Hypopigmentation ... Information Resources What Are Genetic Diseases? Genetics Basics The Basics Birth Defects - Merck Manual, Home Edition Changes to Chromosomes - New South Wales Genetics Program, Australia Changes to Chromosomes: Translocations - New South Wales Genetics Program, Australia ... Genetics and Neuromuscular Diseases - Muscular Dystrophy Association (also in Spanish Genetics Overview - Merck Manual Home Edition Genes and Disease - NCBI ... What are Genetic Disorders? - U of Utah

85. Learning Disorder Gene In Down Syndrome Identified Learning disorder Gene in down syndrome Identified. BERKELEY, CA A major geneticfactor contributing to mental retardation in down syndrome has been http://www.lbl.gov/Science-Articles/Archive/Down-DYRK-gene.html

Learning Disorder Gene in Down Syndrome Identified By Lynn Yarris, lcyarris@lbl.gov April 29, 1997 BERKELEY, CA A major genetic factor contributing to mental retardation in Down syndrome has been identified by researchers at the Ernest Orlando Lawrence Berkeley National Laboratory (Berkeley Lab). Working with transgenic mice that carry segments of human chromosome 21 in their DNA, the scientists have linked learning deficits to DYRK, a gene named for the protein it produces. Any deviation from the normal complement of two copies of this gene appears to impair the ability to learn. This research was led by Drs. Edward Rubin and Desmond Smith, geneticists with Berkeley Lab's Life Sciences Division. It has been reported in Nature Genetics (May 1, 1997). "We've demonstrated that DYRK is a gene for which dosage plays an important role in how neuronal pathways are put together," says Rubin, who heads biology research for Berkeley Lab's Human Genome Center. "Our work suggests that you need exactly two copies of DYRK for normal development." Down syndrome occurs in about one out of every 800 newborns with the incidence increasing markedly in the offspring of women over 35. Affecting an estimated one million Americans, it is the leading genetic cause of mental retardation and is associated with a shorter-than-average life expectancy (55). Other symptoms are heart and intestinal defects, problems with the immune and endocrine systems, and a raft of tissue and skeletal deformities.

86. DSA Information analses of hypotheses that attempts to account for the presence of down Syndromeas a risk factor for Alzhemier Disease. 67, genetic disorder Sourcebook, Bellenir http://www.dpa.org.sg/DSA/DSAResources_library_catalogue_medical.htm

About DSA Down Syndrome Info My Baby 8th World Congress ... Membership Book ID Title Author Subject ISBN Notes Medical Written by a team of 25 authors who are experts in the fields of medicine, dentistry, rehabilitation, psychology, nursing and nutrition, giving parents an overview of specific medical conditions that are more common among children with Down Syndrome Heart Disease in persons with Down Syndrome Medical 1-55766-224-X Includes selected papers From the International Congress on Heart Disease in Down Syndrome, held in Rome, Italy, May 1992, as well as other invited contributions. Clinical Perspective in Mgmt of Down Syndrome Medical 0-387-9687-X Provides practical and theorectical information about the mangement styles and changing perspectives and attitudes surrounding the needs of the person with Down Syndrome. Alzhemier Disease, Down Syndrome and their ... Medical - Covers the association between Alzhemier Disease and Down Syndrome - Provides overview of the each disorder, detailed accounts and analses of hypotheses that attempts to account for the presence of Down Syndrome as a risk factor for Alzhemier Disease.

87. HealingWell.com Library - News And Articles While most people have 46 chromosomes, people with the genetic disorder known asDown syndrome have 47, says Dr. Donald R. Mattison, medical director for the http://healingwellneuro.subportal.com/health/Diseases_and_Conditions/Genetic_Con

Search Site: Search Web: HealthPortal Diseases and Conditions Genetic Congenital Down Syndrome Brewing Away Down Syndrome? Brewing Away Down Syndrome? But caffeine connection has a negative flip side By Neil Sherman HealthScout Reporter TUESDAY, Jan. 23 (HealthScout) Mothers who guzzle coffee seem to give birth to fewer babies with Down syndrome, claims new research. But the findings aren't quite so cut and dried. Caffeine causes miscarriages, the researchers add, and the mothers they studied also carried fewer babies to full term. And, they say, mothers who drink lots of coffee, but also smoke have more Down syndrome babies. "What we were trying to find out is if there were any factors that might predispose a woman to have either a baby, or a fetus, who had Down syndrome," says Claudine Torfs, currently the research program director for the Public Health Institute in Berkeley, Calif. Torfs led the study while with the California Birth Defects Monitoring Program in Oakland. "And while we looked at many factors, we decided to look at the kind of lifestyle factors that might have some impact coffee consumption, smoking, alcohol consumption and combinations of the three," Torfs says. The researchers analyzed about half the births in the state of California from 1991 to 1993, asking 997 mothers who either had given birth to a Down syndrome child or had miscarried a Down syndrome fetus about their coffee, alcohol and smoking habits. "We compared those mothers to 1,007 mothers who had normal infants, and we also controlled for maternal age, since it is well-known that older mothers are more susceptible to have a Down syndrome infant or fetus," she says.

88. Genetic Syndromes To the family whose child is affected by a genetic disorder, answers areof the essence. Angelman's syndromeA rare neurogenetic disorder. http://specialchildren.about.com/library/weekly/aa022499.htm

zfp=-1 About Parenting Special Needs Search in this topic on About on the Web in Products Web Hosting Parenting Special Needs with Jody Swarbrick Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS What is Reactive Attachment Disorder "Support Center" Start a Support Group ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Genetic Syndromes Genetic disorders are recognized as syndromes and metabolic disorders, also called inborn errors. Genetics is a science devoted to studying our inherited biological characteristics. Geneticists are making great strides in identifying and isolating chromosomes that are contributing factors in syndromes. We're on the cutting edge of discovering medical answers to the infinite questions that dictate our very beings. I strongly believe that as parents we are the ultimate advocates for our children. I just as strongly believe that knowledge empowers us, enabling us to seek quality care for our special children. To the family whose child is affected by a Genetic disorder, answers are of the essence. Please send me information and Web links that will empower families who are parenting our very special children. Listed below are brief descriptions of some of the Syndromes that you will find included in in our Genetics Library Angelman's Syndrome -A rare neurogenetic disorder. From Angelman Syndrome Foundation, Inc.

89. Specific Genetic Information Cornelia de Lange syndrome A genetic disorder that causes low birthweight, microcephally, delayed growth, and mental disabilities. http://specialchildren.about.com/cs/specificinfo/

zfp=-1 About Parenting Special Needs Search in this topic on About on the Web in Products Web Hosting Parenting Special Needs with Jody Swarbrick Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects ESSENTIALS What is Reactive Attachment Disorder "Support Center" Start a Support Group ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement Specific Genetic Information Guide picks Exact information in regard to specific genetic syndromes/disorders. About Cystic Fibrosis A debilitating genetic disorder characterized by lung and digestive problems. About's Guide to Pediatrics, Vincent Iannelli, MD offers substantial information. About Rett Syndrome Rett Syndrome is a rare neurological disorder, affecting one out of ten to twenty thousand births. It is often misdiagnosed as cerebral palsy or autism. It primarily occurs in females and it can strike all racial and ethnic groups. Neurofibromatosis Neurofibromatosis 1 (NF1) occurs in approximately 1 in 4,000 births. One of the leading characteristics of NF 1 is cafe-au-lait spots and neurofibromas on or under the skin. Neurofibromatosis 2 (NF2), is much rarer and occurs in approximately 1 in 40,000 births. NF2 is characterized by multiple tumors on the cranial and spinal cord. About Kids Pseudo-obstruction and Hirschsprung's Disease Dedicated to information, assistance, and support for those affected by GI disorders. From IFFGD, a nonprofit education and research organization.

90. Down Syndrome:  Trisomy 21 down syndrome Trisomy 21. by Jonathan Bettencourt. down syndrome is agenetic disorder that occurs because of abnormal chromosome structure. http://phoenix.liunet.edu/~mkerner/biology/jbdown.htm

Down Syndrome Trisomy 21 by Jonathan Bettencourt Down Syndrome is a genetic disorder that occurs because of abnormal chromosome structure. This abnormality is characterized by specific physical features and limited mental functions, along with several internal organ malformations. In Down Syndrome, ninety-five percent of all cases are caused by the following event; one cell has two 21st chromosomes instead of one, so the resulting fertilized egg now has three sets of the 21st chromosomes. Because of this triplication of chromosome 21, the scientific name of Trisomy 21 became known. In 1866, a physician and geneticist named John Langdon Down, studied a small group of children who had common physical features, and were different than normal children. However, the difference was similar in those who had the disorder. He found out that the reason those children were physically abnormal was because there was the presence of an extra No. 21 chromosome, which altered the bodily structure along with its mental capabilities of that person, and thus the appearance. Because of Dr. J. L. Down's contribution to research, more than a hundred years ago, we know much more today of Down Syndrome which was named after him. In other parts of the world today, Down Syndrome is widely known as just "Downs." Dr. John Langdon Down wrote the first detailed description about the disorder. As time went by, many other people contributed to the study of Down Syndrome as well. In 1930, Brewster and Cannon were the first to report an association between Down's observations and acute leukemia. In 1954, Schunk and Lehman were the first to report an association between Down's observations and transient leukemia. In 1959, Lejeune was the first to associate Down's observations with Trisomy 21 genetics. So you see, it all developed into a chain of research, but it was John Langdon Down who established the first solid base for the study of the disorder.

91. Human Genetic Disorders Target Human genetic disorders . Hello all! 10. What is the qualityof life like for someone with this disorder? 11. Fragile X syndrome, http://www.adamsexperience.org/genetics.htm

Target - Human Genetic Disorders Hello all! You've done a good job so far on your projects. Now it's time to do some online exploring! As you know, we are studying genetics right now and how our DNA can determine, at least in part, who we are and what we do. Each of you has chosen a disorder that affects people through their genes. You will spend two days researching your disorder, answering the questions listed below. The end result of your research will be a PowerPoint presentation that is shared with the class on October 29, 2002. Any questions? Let me know! Things you should look for in your research (in no particular order): 1. How is the disease inherited - is it a simple dominant/recessive issue or is it more complex? 2. Who first documented this disorder and when? Does the name have any special significance? 3. What chromosome(s) is the defective gene(s) found on? 4. What are the symptoms of this disorder? 5. Is it fatal? 6. What kinds of cures/treatments/coping mechanisms are available? 7. How many people are affected by this disorder? Give to me in ratio form (1 out of 100,000 people, for example).

92. SUNY Upstate Medical University: Department Of Otolaryngology And Communication Overview of VCFS describing condition, causes and red flags. Provides contacts for more information Category Health Conditions and Diseases Velo-Cardio-Facial syndrome...... as Shprintzen syndrome, VCFS is a genetic condition that to Dr. Shprintzen, this littleknownsyndrome could be second in frequency only to down's syndrome. http://www.upstate.edu/ent/velo.shtml

Services Residency Program Craniomaxillofacial Fellowship Program ... Home ...Upstate Menu... Contacting Upstate Upstate Calendar Telephone Lookup E-mail Lookup Colleges: -Medicine -Graduate Studies -Nursing -Health Professions Library Employment Departments Search Page University Hospital Upstate Home Velo-Cardio-Facial Syndrom: Center for Diagnosis Treatment and Study A child with a single serious health problem is a major challenge for any family. But the families who seek out University Hospital's Robert Shprintzen, Ph.D., grapple with dozens of serious health problems. Their children suffer from Velo-Cardio-Facial Syndrome (VCFS), and Dr. Shprintzen is the world's authority on this complexand perplexingand surprisingly common genetic disorder Hign Occurrances Commonly known as Shprintzen syndrome, VCFS is a genetic condition that impairs almost every bodily function and occurs as often as one in every 2000 births. According to Dr. Shprintzen, this little-known syndrome could be second in frequency only to Down's syndrome. A staggering array of 180 anomalies are associated with Shprintzen syndrome. The problems first appear in infancy, when a child may suffer from: congenital heart abnormalities cleft palate serious feeding problems breathing problems.

93. File Not Found On AAP Web Site web site features the Directory of National genetic Voluntary Organizations eachgroup, from the Aarskog syndrome Parents Support down syndrome Health Issues. http://www.aap.org/bpi/Genetics.html

Members Only Channel Search Site Map BookStore ... Home The file that you have requested could not be found on the AAP Web site. You will be automatically redirected to the main page of our Web site. Please wait or click here © 2002 - American Academy of Pediatrics

94. Genetic down syndrome, Edward syndrome and Patau syndrome are the The cancers with the highestgenetic contribution included prostate, colorectal, stomach, breast http://www.betterhealth.vic.gov.au/bhcv2/BHCLang.nsf/(LevelThree)/CE1198810E00E8

95. Down Syndrome The Functional Medicine concept of down syndrome is that of a genetic disorderdue to a metabolic over expression of oxidative stress metabolites. http://www.noaw.com/Down_syndrome/down.htm

Down syndrome We all know the fear an Allopathic diagnosis of Down syndrome brings to a family....but other medical paradigms are moving from fear...to knowledge...to appreciation and purpose. Please investigate the information below before you give in to the Allopathic Medical Model....then decide for yourself. The Functional Medicine concept of Down syndrome is that of a genetic disorder due to a metabolic over expression of oxidative stress metabolites. This then lends itself to metabolic manipulation of this genetic expression, to the point of essentially slowing down or preventing many of the symptoms seen in Down syndrome. Redirecting this metabolic expression seems to be most crucial at birth to four months of age to really make a significant impact on the life of the child with Down's. Energetic Medicine's placement of Down Syndrome is expressed wonderfully by Meg Laughlin in What Love Can Build. She relates that Albert Einstein once said that the single most important decision any of us will ever make is whether or not to believe the universe is friendly. Perhaps a Down Syndrome child is that special gift nature blesses us with...so that we connect to this vital energy source. Due to the advancements in genetic research, one of the most tragic errors in human reproduction, Down syndrome is becoming manageable. Manageable to the point of being able to eliminate the disabilities associated with the genetic over expressions on the 21st chromosome. The degree to which these disabilities can be eliminated is dependent on the the age of the child when the therapy is begun, the effectiveness of the therapy, and the exact errors associated with the specific Down syndrome. Thus according to Steven Wm. Fowkes, "functional normalization of growth rate and cognitive development is a reasonable expectation if intervention is begun early in life."

96. Down Syndrome: For New Parents Recommends books, offers advice to relatives and friends, and hosts a forum for parents to exchange ideas and give support. Read Mikey's story. http://www.downsyn.com/

"Just when you think you have learned what you need to know in life, someone truly special comes into it and shows just how much more there is." On April 11, 1997, our son Michael was born. Mikey is a wonderful little boy and we love him with all our hearts. Mikey has Down Syndrome. This web site will attempt to be a resource for new parents of children with Down Syndrome. We will also try to provide a personal perspective by explaining how this has affected us and what it is like to be the parent of a child with Down Syndrome. Book of the Month for December 2002 The Down Syndrome Nutrition Handbook: A Guide to Promoting Healthy Lifestyles by Joan E. Guthrie Medlen Paperback (November 2002) Book Description Many parents of children with Down syndrome would like to help their child improve nutrition and manage weight, but don't know where to begin. Now, this much-needed book looks at all aspects of nutrition and healthy living for children with Down syndrome, from birth through young adulthood. The author, a mother of a child with Down syndrome and a registered dietitian, encourages parents to start teaching healthy habits early but stresses that it's never too late to start, no matter what age. Based on years of personal and professional experience and supported by the latest medical research and insights from other parents and adults with Down syndrome, chapters cover: Breast and bottle feeding, Basic nutrition and physiology, Celiac disease, Diabetes, Alternative therapies, Food and school, Weight management, Fitness and exercise, Cooking and menu planning, Education activities.

97. Children - Other Conditions Cystic fibrosis (CF) is the most common, life threatening geneticdisorder in Australia. down syndrome the school experience. http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/ls_children_other

98. © The Centre For Genetics Education Fact Sheet 16, Last Updated May 2002. FOLATE BEFORE PREGNANCY (Preventionof a genetic disorder). Produced by the Centre for genetics Education. http://www.genetics.com.au/Genetics2003/FactSheets/16.asp

GENETIC FACT SHEETS Fact Sheet 16 Last Updated: May 2002 FOLATE BEFORE PREGNANCY (Prevention of a Genetic Disorder) Produced by the Centre for Genetics Education. Fax: (02) 9906 7529 Email: genetics@med.usyd.edu.au Internet: www.genetics.com.au Adobe Acrobat PDF Printable Version (12 KB) Some genetic disorders are caused by an interaction between the inherited genetic information and the environment such as diet and lifestyle factors. Such disorders are called "multifactorial" conditions (see Genetics Fact Sheet 7). A person will be affected by these conditions if they are genetically predisposed, and are exposed to the environmental factor which can "`trigger" the disorder. If exposure to the environmental trigger can be prevented, it may be possible to prevent the person being affected with the condition despite their genetic make-up. CAN ALL MULTIFACTORIAL CONDITIONS BE PREVENTED? No. The environmental trigger is not known for most of these conditions. However, a way has recently been found to prevent the majority of cases of neural tube defects, a multifactorial condition which affects babies (see Genetics Fact Sheet 25). HOW CAN NEURAL TUBE DEFECTS BE PREVENTED?

99. --| Www.twinsandmultiples.org - Special Needs |-- research and family support is that of MZ twins who are discordant for a geneticdisorder. There are some MZ twins where one has down syndrome while the other http://www.curtin.edu.au/corporate/multiplebirths/special_needs/sn3a.htm

reading Attention Deficit Hyperactivity Disorder (ADHD) specific disabilities Major Disability ... references Search this site: Major Disability In the USA, federal legislation mandates support for children with reading disability or ADHD. In many other countries, the situation is very different. The UK has limited residential support for very disabled children , while Australia has minimal out of home resources (apart from respite care) , arguing these children should remain in the family and the community. This section concerns families where in Australia there would be support from Disability Services and where in the UK they would be classed as Special Needs, with access to financial and/or personnel support. Many of the mutiple birth organisations listed in Multiple Links have resource material on disability for families and the Multiple Births Foundation has some also for professionals.

100. ATE Responses First, down's syndrome (also called trisomy 21) is technically not a geneticdisorder, although it does involve abnormality of chromosome 21. http://www.mdausa.org/experts/question.cfm?id=1061

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