NORD - National Organization For Rare Disorders, Inc. General Discussion. shwachman syndrome is a rare genetic disorder with multiple and abnormal skeletal changes, individuals with shwachman syndrome may have abnormal thickening of http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Shwachman Syn
Shwachman Syndrome shwachman syndrome Support Group. ( ShwachmanDiamond Syndrome, Shwachman-Bodian Syndrome, Burke Syndrome) shwachman syndrome Support International http://www.kumc.edu/gec/support/shwachma.html
Extractions: helpful? yes no Shwachman syndrome: Congenital Pancreatic Insufficiency with Neutropenia and Growth Failure; Shwachman-Diamond syndrome Shwachman syndrome is a rare multi-system disorder in which affected individuals have a defective pancreas that fails to secrete digestive enzymes, poor growth and a predisposition to recurrent infection and blood disorders. The digestive defects results in diarrhoea and steatorrhoea with a tendency to fat soluble vitamin deficiency. Poor growth is an innate part of the condition and in about 50 per cent of individuals specific skeletal defects are present including metaphyseal dysostosis and a thoracic dystrophy. Diagnosis requires specialist gastroenterological and haematological investigation. Recurrent infection, which may be life threatening, is due to both minor immunodeficiency and neutrophil defects. In about 60 per cent of cases neutropenia is present and this may be cyclical. In severe cases more serious haematological disorder may occur with aplastic anaemia (anemia - US) and myelodysplasia. Rarely, hepatic fibrosis and ichthyotic skin lesions may occur. Treatment is by pancreatic enzyme replacement and multi-vitamin supplements with prophylactic antibiotics to control infection. Haematological and immunological defects may require appropriate specific treatment.
Shwachman Syndrome / Family Village Library Who to Contact. Where to Go to Chat with Others. Learn More About It. Web Sites. Search Google for "shwachman syndrome" Who to Contact. ShwachmanDiamond Syndrome Support International. c/o Joan Mowery. 5195 Hampsted Village Ctr Way, PMB 162 http://www.familyvillage.wisc.edu/lib_ss.htm
Extractions: Web: http://www.shwachman-diamond.org Shwachman-Diamond Syndrome Support International is the premier nonprofit support organization helping the victims of this disease. Our primary goals are to link families for emotional support locally, nationally and internationally, and supply them with the most current medical information available. This information is provided through the knowledge and cooperation of our medical advisory board. We are in the forefront of the fight to find a cure for this disease. This organization was founded in 1994 by concerned parents. Our membership is comprised of children and adults with Shwachman-Diamond Syndrome, their parents, families, friends, and concerned medical professionals. We are now offering support to families in seventeen countries from around the world and our membership is growing daily. A support list for all affected in some way by Shwachman-Diamond Syndrome (SDS). We wish to provide those affected by SDS a place to find encouragement and support.
Www.icondata.com/health/pedbase/files/SHWACHMA.HTM www.geocities.com/HotSprings/Spa/1120/ healthfinder® ShwachmanDiamond Syndrome International - SSSThe Shwachman-Diamond Syndrome International (formerly shwachman syndrome Support) is a non-profit group that operates on national and international levels. http://www.icondata.com/health/pedbase/files/SHWACHMA.HTM
EMedicine - Shwachman-Diamond Syndrome : Article By Antoinette C Spoto-Cannons, ShwachmanDiamond Syndrome - Shwachman-Diamond syndrome (SDS) is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and short stature. In 1964, al Steatorrhea and pancreatic insufficiency in shwachman syndrome. Gastroenterology 1982 Jul; 83 et al A case of shwachman syndrome with increased spontaneous chromosome breakage http://www.emedicine.com/ped/topic2060.htm
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Hematology Last Updated: October 4, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: SDS, bone marrow dysfunction, pancreatic insufficiency, short stature, congenital lipomatosis of pancreas, metaphyseal dysplasia, pancreatic hypoplasia, marrow dysfunction, pancreatic hypoplasia, marrow dysfunction, metaphyseal dysplasia, Shwachman-Bodian syndrome, Shwachman-Diamond-Oski-Knaw syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Antoinette C Spoto-Cannons, MD, FAAP , Pediatric Third Year Medical Student Associate Clerkship Director, Assistant Professor, Department of General Pediatrics, University of South Florida College of Medicine, All Children's Hospital Coauthor(s): Mudra Kumar, MD, MBBS, MRCP , Associate Professor, Department of Pediatrics, University of South Florida College of Medicine Antoinette C Spoto-Cannons, MD, FAAP, is a member of the following medical societies:
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
Extractions: 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, Then You Well Diserve a Gift From Shared From My Heart Here I share my Daughter Angelica's story. Sharing this has helped me 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 this. I take the opportunely to ask those who may be grieving lost ones, or who may be feeling pain or helpless due to tragedy, to forward their story on the WWW, or write it down on paper at least. One may shed tears while recalling wonderful and or painful memories of lost ones. Reflect upon this, that tears are nature's way of washing away the pain, while reinforcing the positive attributes shared with those whom you Love and cherish. The First Sound The first sound Angelica heard as she came into this world, was the sound produced by gently blowing a stream of warm air from my lips, into her right ear. After this I expressed a short prayer. This is the way of the Sufi, bringing and welcoming a new born child into this world.
Extractions: printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. SCAD see Fatty Acid Oxidation Disorders
ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Diseases and Abnormalities at or before Birth shwachman syndrome. Include trials that Versus Host Disease; Neutropenia; shwachman syndrome; RedCell Aplasia, Pure; Osteopetrosis http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1
Support Groups shwachmandiamond.org. Italy, The Association for shwachman syndrome Contact Aurelio Lococo email aiss@shwachman.it www.shwachman.it. http://www.shwachman-diamond.org/support.htm
Shwachman Syndrome - Information / Diagnosis / Treatment / Prevention home genetic disorders shwachman syndrome shwachman syndrome. NORD shwachman syndrome Offers a general discussion, the synonyms and further resources. http://www.healthcyclopedia.com/genetic-disorders/shwachman-syndrome.html
Shwachman Syndrome shwachman syndrome Important It is possible that the main title of the report shwachman syndrome is not the name you expected. Please http://my.webmd.com/hw/raising_a_family/nord371.asp
Extractions: Shwachman syndrome is a rare genetic disorder with multiple and varied manifestations. The disorder is typically characterized by signs of insufficient absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency) and improper functioning of the bone marrow (bone marrow dysfunction), resulting in low levels of circulating blood cells (hematologic abnormalities). Additional characteristic findings may include short stature; abnormal bone development affecting the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); and/or liver abnormalities. Due to abnormal skeletal changes, individuals with Shwachman syndrome may have abnormal thickening of the ribs and their supporting connective tissue (costochondral thickening), resulting in unusually short, flared ribs. In addition, improper bone development (abnormal ossification) within the arms and/or legs (limbs) may cause growth delay in particular bones. Many children with Shwachman syndrome may also be smaller than expected for their ages, with below average height (short stature) and weight. Although malabsorption due to pancreatic insufficiency may itself cause problems with growth and nutrition, short stature appears to be one of the many primary manifestations of Shwachman syndrome.
Shwachman Syndrome shwachman syndrome ShwachmanDiamond Syndrome Support International network. WRITE shwachman syndrome Support International 5195 Hampsted Village Ctr. http://my.webmd.com/hw/health_guide_atoz/shc29shw.asp
Extractions: Mutual support and information for families affected by Shwachman-Diamond syndrome, which is characterized by pancreatic insufficiency, retarded bone growth and hematological abnormalities. Includes Johansen-Blizzard syndrome, cartilage-hair and any unusual neutropenia. Advocates for research. Networking, literature, advocacy, information and referrals, conferences, phone support. Newsletter. Supports research.
Health Library - shwachman syndrome. Disorder Subdivisions. None. General Discussion. shwachman syndrome is a rare genetic disorder with multiple and varied manifestations. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw
Shwachman Syndrome shwachman syndrome is a rare genetic disorder with multiple and varied manifestations. National Organization for Rare Disorders, Inc. shwachman syndrome. http://www.bchealthguide.org/kbase/nord/nord371.htm
Extractions: It is possible that the main title of the report 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. Information on the following diseases can be found in the Related Disorders section of this report: Shwachman syndrome is a rare genetic disorder with multiple and varied manifestations. The disorder is typically characterized by signs of insufficient absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency) and improper functioning of the bone marrow (bone marrow dysfunction), resulting in low levels of circulating blood cells (hematologic abnormalities). Additional characteristic findings may include short stature; abnormal bone development affecting the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); and/or liver abnormalities.
Shwachman Syndrome shwachman syndrome. ShwachmanDiamond Syndrome Support. Newsletter. Supports research. WRITE shwachman syndrome Support International 5195 Hampsted Village Ctr. http://www.bchealthguide.org/kbase/shc/shc29shw.htm
Extractions: Mutual support and information for families affected by Shwachman-Diamond syndrome, which is characterized by pancreatic insufficiency, retarded bone growth and hematological abnormalities. Includes Johansen-Blizzard syndrome, cartilage-hair and any unusual neutropenia. Advocates for research. Networking, literature, advocacy, information and referrals, conferences, phone support. Newsletter. Supports research. The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.
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Genetic Disorders, Shwachman Syndrome Category Home Health Conditions and Diseases Genetic Disorders shwachman syndrome. * Site Title · The name of the site. http://www.iseekhealth.com/directory/index.php?method=show_link_exchange&directo
Shwachman Syndrome; Treatment, Prevention, Cure shwachman syndromeSearch information from many of the best shwachman syndrome health sites. shwachman syndrome Support Network. http://www.healthlinkusa.com/content/279.html
