81. International Mosaic Down Syndrome Association - Home Provides information and support for people with this condition and their families. http://www.imdsa.org

82. Coshocton County MRDD - Therapy Services GENETIC DISORDERS . General Info www.gslc.genetics.utah.edu/units/disorders/whataregd. Specific Disorders www.specialchild.com/disorder.html. Genetic Testing http://www.coshmrdd.org/therapylinks.html

83. Bill And Ria - Sharing Experiences About Life, Parenting, And Down Syndrome Sharing experiences about parenting, life and Down syndrome. http://billandria.blogspot.com

skip to main skip to sidebar Home About ... Contact Thursday, November 11, 2010 The Best Big Brother Growing up, I had always wanted a brother or a sister. That decision wasn't mine to make. "My child will not be an only child," I promised myself. When Matthew was a baby, I struggled with the thought of wanting a sibling for him. The diagnosis of Down syndrome brought many questions that I couldn't answer at that time. However, I obviously got over my self-doubt. Elizabeth was born 2-1/2 years later. Questions and Realizations What were our chances of having another child with Down syndrome? With all the doctor visits, therapies and extra time and effort needed, I didn't know if I could handle another child with Down syndrome. Newsflash to self: Every child has needs! Every child is unique and special. Having Down syndrome means that Matthew's development is slower than his typical peers, which is why he gets therapy for certain areas of development and I put more effort into his development. Having Down syndrome means he may have more health issues that need extra attention, which is why he has many doctor visits. Some kids with Down syndrome see more doctors and specialists than we do, some see less. We take Matthew to a pediatric opthamologist once a year or once every 2 years, his pediatrician every year and a pediatric otolaryngologist (ENT) every 6 months on average. Matthew is just like his typical peers - all needing varying degrees of time and attention. Down syndrome is just a part of him. It doesn't define who he is.

84. Diamantina Institute Www Professor Daniel Markovich  Membrane Transporters (general theme) .  Genetic Disorders (general theme) . Associate Professor Conrad Sernia  Is alcohol an antioxidant? http://www.uq.edu.au/sbms/Honours/Available_Honours_Projects_2010.pdf

85. Glutaric Aciduria Type 1 Information and links for children with GA1. http://www.ga1.freeservers.com

86. 9 East - General Pediatrics | Nursing | NYU Langone Medical Center | New York, N Genetic Disorders ; General Pediatrics ; Registered Nurses work with an interdisciplinary team consisting of Nurse Practitioners ; Doctors ; Surgical Staff http://nursing.med.nyu.edu/nursing-nyuhc/departments-and-unit-profiles/maternal-

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87. Disease Information From NORD, National Organization For Rare Disorders, Inc. Offers alternate names, a general discussion and resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Glutaricacidu

88. Welcome To The International Organization Of Glutaric Acidemia (IOGA) Information about the organization, their services and about the disease. Including events, newsletter, FAQs, message board and links. http://helpioga.org/

IOGA International Organization of Glutaric Acidemia About Us Articles Events Links ... Home 8th Annual Golf Outing Calendar of Events There are no events at this time Welcome to the International Organization of Glutaric Acidemia (IOGA) Michael Charles Metil This is a Pittsburgh story. No, it is not about Steelers, Penguins or Pirates. It is about a boy named Michael Charles Metil. A boy that transformed many lives including mine. As parents we want absolutes. Nothing uncertain. This would not be the case for Michael. Would he accomplish the most basic skills was a hugh question mark?. As he grew we saw to it his life was full of activities. Once stabilized we as parents involved ourselves proactively with efforts to alleviate suffering or injury of children with this rare genetic anomaly. So became the non profit organization IOGA (International Organization of Glutaric Acidemia). The inspiration became reality. IOGA mission includes advocating expanded newborn screening, hosting and sponsoring medical conferences, linking families with each other, collaboration between clinicians, researchers and parents. IOGA funded research for several years with doctors at Hershey Medical Center. Invest gating the possibility of stem cells to reverse brain injury of affected children. We were a resource tool aiding parents on locating specialists to treat there children. Next came the inspiration of a winery. A one of a kind wine business set up for philanthropy. Named the

89. Currarino Syndrome Paper by Sally Ann Lynch. http://atlasgeneticsoncology.org/Kprones/CurrarinoID10082.html

90. Moylan Family Website & Williams Syndrome An Irish family s experience of Williams Syndrome. http://homepage.eircom.net/~moylanfamily

var MoyPgNm='about'; About Us We are Tom Moylan and Olivia Murray, and our two children Patricia and John. Tom is from Kinnitty, County Offaly, and currently works for Ericsson. Liv is from Waterford and works at home, which is in Booterstown in Dublin. Our daughter Patricia is 20 and has Williams Syndrome. Our son John is 13. We are both UCD Physics graduates. We like to know who's visited - please sign our Guest Book Please note that since June 2009 this website is no longer maintained - it is still available in case the content is of help to anyone. This site uses frames but your browser doesn't support them. Choose which page you want from the list. Then use your browser's back button to get back to here. Patricia Waterford Offaly Photo Gallery ... Guest Book Entries 2001

91. Williams Syndrome - Wikipedia, The Free Encyclopedia A concise summary of its cause and symptoms. http://en.wikipedia.org/wiki/Williams_syndrome

Williams syndrome From Wikipedia, the free encyclopedia Jump to: navigation search Williams syndrome Classification and external resources ICD Q ICD OMIM ... MeSH Williams syndrome WS or WMS ; also Williams–Beuren syndrome or WBS ) is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7 It is characterized by a distinctive, " elfin " facial appearance, along with a low nasal bridge ; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with unusual (for persons who are diagnosed as developmentally delayed) language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia . The syndrome was first identified in 1961 by Dr. J. C. P. Williams of New Zealand and has an estimated prevalence of 1 in 7,500 to 1 in 20,000 births. Contents Signs and symptoms Nervous system Cause Treatment ... edit Signs and symptoms The most common symptoms of Williams syndrome are mental disability, heart defects, and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy and low muscle tone. Most individuals with Williams syndrome are highly verbal and overly sociable, having what has been described as a "cocktail party" type personality, and exhibit a remarkable blend of cognitive strengths and weaknesses. Individuals with WS hyperfocus on the eyes of others in social engagements.

92. Asociatia Williams Syndrome - Homepage Supporting WS families in Romania. http://www.williams-syndrome.ro/

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93. Australian Williams Syndrome Forum - Login Bulletin board for parents with questions, or just needing to vent. http://wsaustralia.proboards.com/

94. Children's Hospital | Our Services | Medical Specialties An article about incotinentia pigmenti. http://www.mc.vanderbilt.edu/peds/pidl/nutrit/incont.htm

Quick Links Career Opportunities Contact Us Finances and Insurance Gift Shop Health Library Multimedia Library My Health at Vanderbilt Partnering for Patient Safety Residency Program Site Map Social Media Volunteer Website Feedback Form Our Services A to Z Listing Clinical Services International Services ... Our Services Our Services Medical Specialties All of our physicians, surgeons, and nurses have received specialized training in taking care of children so you can rest assured that your child is receiving the very best treatment. The many specialties at Children's Hospital are shown below: Adolescent Medicine Allergy, Immunology and Pulmonary Medicine Anesthesiology Cardiology ... Urology Last Edited: October 4, 2010 About Us Getting Here Our Services Family Resources ... Login Vanderbilt University is committed to principles of equal opportunity and affirmative action. anylinkmenu.init("menuanchorclass");

95. Cowden Syndrome A CHORUS notecard document about this syndrome. http://chorus.rad.mcw.edu/doc/00100.html

CHORUS Collaborative Hypertext of Radiology Colon About CHORUS Search Feedback Cowden syndrome "multiple hamartoma syndrome" GI-tract hamartomas (incl. stomach and colon) breast Ca thyroid Ca circumoral papillomatosis nodular gingival hyperplasia See also: polyposis syndromes Charles E. Kahn, Jr., MD - 2 February 1995 Last updated: 1 September 2006 Related CHORUS documents: polyposis syndromes gastric polyps Peutz-Jeghers syndrome Cronkhite-Canada syndrome ... Medical College of Wisconsin

96. Cowden Syndrome Provides information for physicians on this autosomal dominant inherited disorder. http://www.thedoctorsdoctor.com/diseases/cowdensyndrome.htm

Background Cowden syndrome (CS) is a autosomal dominant inherited syndrome. These patients are characterized by multiple hamartomas occurring in the skin, breast, thyroid, gastrointestinal tract, endometrium, and brain. Patients do have an increased risk of experiencing malignant tumors with the most common ones are breast, endometrial, and thyroid cancer. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/ ... Internet Links EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Multiple hamartoma syndrome DISEASE ASSOCIATIONS CHARACTERIZATION Bannayan-Zonnana syndrome Some cases show overlap with macrocephaly, intestinal polyps, and lipomas, and mulitple trichilemmomas are found in both diseases Genetic basis of these two diseases is identical. INVERTED FOLLICULAR KERATOSES Multiple inverted follicular keratoses as a presenting sign of Cowden's syndrome: case report with human papillomavirus studies. Ruhoy SM, Thomas D, Nuovo GJ. Department of Pathology, Sunrise Hospital and Medical Center, USA. J Am Acad Dermatol. 2004 Sep;51(3):411-5. Abstract quote

97. AKU Society An information and support network for those people diagnosed with Alkaptonuria. Includes discussions, articles and related resources. http://www.alkaptonuria.info/

select language English French Italian German Russian Spanish Home What is AKU Features Donate ... Facebook group News and Updates Register now for the 4th International Workshop on AKU, the first identified Inborn Error of Metabolism. The AKU Society is pleased to announce that the 4th International Workshop on AKU, will be held at Sidney Sussex College, Cambridge University, on Mon AKU Newsletter 4th edition AKU Communications Project Manager vacancy Patient conference 4 September 2010 Facebook group Request for teeth Financial Support to keep the Information centre – A Plea from the heart 3rd AKU conference in Siena WELCOME TO THE ALKAPTONURIA SOCIETY WEBSITE Our aim is simple - to create an information and support network for those people diagnosed with the condition. Our job is to find the latest news, research and treatments and provide you with the best information we can. But remember, this is your website and we hope you will share your news and experiences. AKU NEWSLETTER 4TH EDITION The fourth edition of the AKU Newsletter has been published. Inside you'll find lots of stories from both the UK and abroad, a report from Nick Sireau about the European Rare Diseases Conference in Krakow and loads more information. Download the newsletter here.

98. Alkaptonuria And Ochronosis. DermNet NZ Factsheet on these disorders, their cause, clinical features and treatment. http://dermnetnz.org/colour/alkaptonuria.html

@import url("/common/screen.css"); DermNet NZ Advertisement Facts about skin from the New Zealand Dermatological Society Incorporated . Topic index: A B C D ... Skin pigmentation Alkaptonuria and ochronosis What is alkaptonuria and ochronosis? Alkaptonuria is a rare genetic disease that is characterised by passing urine that becomes black when left standing. The earliest sign of the condition is usually dark staining found in nappies or diapers of infants. The most obvious sign in adults is a thickening and blue-black discolouration of the ear cartilage. This blue-black discolouration of connective tissue (including bone, cartilage, and skin) is caused by deposits of yellow or ochre-coloured pigment is called ochronosis. What causes alkaptonuria and ochronosis? Alkaptonuria is an autosomal recessive inherited disorder, which means that two abnormal genes (one from each parent) are needed to have the disease. The defect causes the body not to produce enough of an enzyme called homogentisic acid oxidase. This enzyme normally breaks down a toxic by-product of tyrosine metabolism called homogentisic acid. Although some of this is excreted in urine, small amounts remain in the body and slowly and progressively get deposited in bones and cartilage where it turns into a pigmented polymeric material. Ochronosis may also be caused by external agents. These may include:

99. Sirenomelia - Wikipedia, The Free Encyclopedia Wikipedia article. http://en.wikipedia.org/wiki/Sirenomelia

Sirenomelia From Wikipedia, the free encyclopedia Jump to: navigation search Sirenomelia Classification and external resources Sirenomelia. ICD Q ICD MeSH Sirenomelia , alternatively known as Mermaid Syndrome , is a very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid 's tail. This condition is found in approximately one out of every 100,000 live births (about as rare as conjoined twins ) and is usually fatal within a day or two of birth because of complications associated with abnormal kidney and urinary bladder development and function. More than half the cases of sirenomelia result in stillbirth and this condition is 100 times more likely to occur in identical twins than in single births or fraternal twins. It results from a failure of normal vascular supply from the lower aorta in utero. citation needed Maternal diabetes has been associated with caudal regression syndrome and sirenomelia, although a few sources question this association. VACTERL-H is an expanded form of the VACTERL association that concludes that this diagnosis is a less severe form of sirenomelia.

100. Indian Pediatrics - Editorial Infantogram of a baby with Sirenomelia. http://www.indianpediatrics.net/feb2004/feb-196.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2004; 41:-196 Sirenomelia A 26-year-old mother delivered a baby with fusion of both lower limbs, absent genitalia, absent anal orifice and single umbilical artery ( Fig. 1 Fig. 2 ). Autopsy revealed that kidneys, ureter and urinary bladder were absent, undetermined genital structures and rectum ending into a blind pouch. Fig 1. Sirenomelia baby Fig 2. Infantogram of baby with Sirenomelia. Sirenomelia (mermaid baby) sequence is a rare developmental defect of the posterior axis caudal blastima with reported incidence of 1:60000 live births. It is characterized by the fusion of both lower limbs, absent genitalia and anal orifice and renal agenesis. The inci-dence is increased in monozygotic twins. Etiology is unknown with a male prepordence. The antenatal diagnosis of sirenomelia by X -ray and ultrasonography has been reported. Sometimes because of oligohydramnios the diagnosis of sirenomelia is missed out. As it is possible to demonstrate sirenomelia as early as 20 weeks of pregnancy and it being a lethal anomaly, an early diagnosis could be useful in terminating the pregnancy.

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