SHWACHMAN-DIAMOND SYNDROME A definition of Shwachman-Diamond syndrome, the epidemiology, pathogenesis, clinical features, investigat Category Health Conditions and Diseases shwachman syndromePediatric Database (PEDBASE); Discipline GEN; Last Updated 3/15/96SHWACHMANDIAMOND SYNDROME. DEFINITION A rare disorder characterized http://www.icondata.com/health/pedbase/files/SHWACHMA.HTM
Extractions: Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 3/15/96 A rare disorder characterized by exocrine pancreatic insufficiency, metaphyseal dysostosis, and a congenital form of neutropenia (+/- pancytopenia). risk factors: considered a rare form of osteochondrodysplasia 2. Anemia (>20% of cases)
Shwachman Diamond Syndrome International Also known as shwachman syndrome, ShwachmanBodian Syndrome Burke Syndrome. SHWACHMAN-DIAMOND SYNDROME http://www.shwachman-diamond.org/
Shwachman Home Page Presents a definition, the epidemiology, pathogenesis, clinical features, investigations, and management of this rare disorder. SHWACHMANDIAMOND SYNDROME. DEFINITION A rare disorder characterized by exocrine pancreatic insufficiency, metaphyseal http://ourworld.compuserve.com/homepages/krichardson1
Extractions: Kimwright@tesco.net For the Shwachman-Diamond Syndrome International web site click here Shwachman-Diamond Syndrome is also known as... Shwachman Syndrome, Lipomatosis of Pancrease, Congenital; Shwachman-Bodian Syndrome; Pancreatic Insufficiency and Bone Marrow Dysfunction; Shwachman Diamond Syndrome. Other (WRONG) spellings .... Schwachmann .... Schwachman ... Shwachmann....
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 ... SDS Links Here I share my Daughter Angelica's story with the rest of the world. Sharing this has helped to close certain doors in my mind, which for some years were swinging in the wind's of life. Although this story may help others who may come across and take the time to read it here, it has also been helpful for me. I would like to take this opportunely to ask those who may be grieving lost ones, or who may be feeling helpless due to tragedy, to put forth their story on the WWW. One may shed tears as one recalls wonderful and or painful memories of lost ones. Reflect upon tears being nature's way of washing away past negative thoughts and feelings, while reinforcing the positive attributes shared with loved ones in the past. The First Sound The first sound Angelica heard as she came into this world, was the sound of my gentle blowing a stream of warm air from my lips, into her right ear, directly after I expressed a short prayer. It's a way of the Sufi.
The Contact A Family Directory - SHWACHMAN SYNDROME A definition of shwachman syndrome, its inheritance pattern, prenatal diagnosing and a support group in the United Kingdom. http://www.cafamily.org.uk/Direct/s24.html
Extractions: printer friendly SHWACHMAN SYNDROME home more about us in your area conditions information ... how you can help search this site 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% 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% of cases neutropenia is present and this may be cyclical. In severe cases more serious haematological disorder may occur with aplastic anaemia 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. Expression of the disorder is variable and ranges from mild pancreatic insufficiency to a serious life-threatening disorder.
Shwachman Syndrome Offers a resource for parents of children with shwachman syndrome. Find support groups, chat rooms and research papers. shwachman syndrome. Who to Contact. Where to Go to Chat with Others http://www.familyvillage.wisc.edu/lib_ss.htm
NORD - Shwachman Syndrome Offers a general discussion, the synonyms and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu
Shwachman Canada List En Francais, Other Related Sites Support Groups ShwachmanDiamond SyndromeSupport- International shwachman syndrome Support- Australia Shwachman-Diamond http://www.shwachman.org/other.html
Shwachman Bibliography Home Page shwachman syndrome Bibliography. Alphabetic listing on publicationtitle. Key reference shwachman syndrome Understanding the Disease. http://ourworld.compuserve.com/homepages/krichardson1/biblio.htm
Extractions: Home Page Click here for listing by author Key reference: Shwachman Syndrome: Understanding the Disease. Peter Durie, The Hospital for Sick Children, Toronto, Ontario, Canada. "In 1964, DR. Harry Shwachman first described children who had exocrine pancreatic and hematologic abnormalities. Identical observations were made by Dr. Bodian the same year. These reports recognised that Shwachman Syndrome was probably an inherited condition affecting multiple organs in the body. Additional reports of a larger number of patients have allowed us to develop a more detailed understanding of the clinical manifestations of Shwachman Syndrome. The two largest series to date were reports of 21 cases by Dr Aggett in 1980 and in 1996 a report of 25 cases by our group." A Case of Shwachman's syndrome: evaluation of hemopoietic disorder by in vitro culture technique. Ikuta K. Sasaki H. Koiso Y. Kawashima T. Ohnishi S. Matsuyama S. Japanese Journal of Clinical Hematology. 21. 1989-1991. 1980. A case of Shwachman Syndrome with increased spontaneous chromosome breakage. Tada H et al. Hum Genet Nov 1987 77(3) Pp 289-91
The Contact A Family Directory - Index S Disorders Short Stature see Restricted Growth Shprintzen syndrome see 22q11 DeletionsShwachmanDiamond Syndrome see shwachman syndrome shwachman syndrome Shy http://www.cafamily.org.uk/Idx/s.html
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
Formerly Shwachman Syndrome Intl ShwachmanDiamond Syndrome Support is a non-profit organization and has obtainedtax-exempt status under section 501(c)(3) of the Internal Revenue Code. http://www.shwachman-diamond.org/help2.html
Extractions: You Can Help Shwachman-Diamond Syndrome Support is a non-profit organization and has obtained tax-exempt status under section 501(c)(3) of the Internal Revenue Code. We are dependant on the generosity of people like you to continue our work to help the victims of this disease. Please send your tax-exempt donation to: SHWACHMAN-DIAMOND SYNDROME INTERNATIONAL 5195 Hampsted Village Ctr. Way
Specific Diagnoses (S - T) Facial Syndrome (VCFS); shwachman syndrome; Shy Drager Syndrome; SickleCell Disease; SmithLemli-Opitz Syndrome; Smith-Magenis Syndrome; http://www.familyvillage.wisc.edu/card_st.htm
Shwachman Syndrome - Disease Information First described in 1964, ShwachmanDiamond Syndrome is a rare disease which mainlyinvolves the pancreas, bone marrow and skeleton, but other organs may also http://www.xmission.com/~nobull/detail.html
Extractions: First described in 1964, Shwachman-Diamond Syndrome is a rare disease which mainly involves the pancreas, bone marrow and skeleton, but other organs may also be affected. Next to Cystic Fibrosis, it is the most common cause of pancreatic insufficiency in children. For that reason, it is sometimes confused with Cystic Fibrosis; but in children with Shwachman-Diamond Syndrome the sweat test is normal. People with Shwachman-Diamond Syndrome usually have a decreased ability to digest food because the cells of the pancreas, in which digestive enzymes are produced, do not work properly. Additionally, there is usually a decreased number of at least one kind of blood cells. In some patients, there is a decrease in all kinds of blood cells. Most frequently, this decrease occurs in the number of neutrophils, the blood cell that is necessary to fight bacteria infections. Cause Shwachman-Diamond syndrome is genetic, most likely an autosomal recessive condition. The genetic defect is unknown at present. The inheritance is supported by the presence of more than one effect patient in a family. Males and females are effected with equal frequency. However, the factors which lead to multisystem diseases are unknown. Infants often become ill with symptoms by the age of four or six months old. Early problems include failure to thrive, feeding problems and recurrent infections. Growth soon slows and remains below normal; only a few children show growth beyond the third percentile. Infections are present early in at least 85% of children. These occasionally lead to death. Diagnosis is generally made in the first few years of life, although occasionally diagnosis is delayed.
Shwachman Syndrome Support International Formerly shwachman syndrome Intl. Also known as shwachman syndrome,ShwachmanBodian Syndrome Burke Syndrome. SHWACHMAN-DIAMOND http://www.xmission.com/~nobull/
Extractions: Newsletter - Fall 2000 ... Newsletter - Summer 2000 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. Our mission is to: Provide emotional support to patients and their families.
HealthlinkUSA Shwachman Syndrome Links Try it, you'll love it! AhHa. Click here for page 1 of shwachman syndromeinformation from the HealthlinkUSA directory. Save on Drugs Here. http://www.healthlinkusa.com/279ent.htm
Shwachman Syndrome; Treatment, Prevention, Cure shwachman syndromeSearch information from many of the best ShwachmanSyndrome health sites. shwachman syndrome Support Network. http://www.healthlinkusa.com/content/279.html
SupportPath.com: Shwachman Syndrome SupportPath.com, shwachman syndrome. None Listed. Professional Organizations ofInterest None Listed. Clinical Trials Research on shwachman syndrome http://www.supportpath.com/sl_s/shwachman_syndrome.htm
Shwachman Syndrome Having a child with shwachman syndrome has definantly changed our lives.We both agree that we have become more patient, have more http://www.geocities.com/Heartland/Estates/8902/sds.html
Extractions: But on the other hand, there is times that I feel so very helpless, watching him being poked for lab draws, sleeping next to him in a hospital bed, him lying there ill, going through repeated bone marrow testing, and the list goes on.. Wishing I could take all his problems from him, but knowing I can't, I make the best of this situation. Tyler has been diagnosed since August 21, 1995. We have learned more than you could ever imagine about this rare disease, and have actually educated some in our community about it. We have a wonderful Medical Team, especially Cheri Mattes, and Doug Eisert, those two have been very supportive, and just all around wonderful. I remember a time that Tyler was in the Pediatric Unit, and Cheri was working, she sent Bob and I to go eat..It was a much needed break!! When we returned, Cheri was rocking our baby, with tears streaming down her face. I already at that time knew how wonderful she was, but the respect and love grew. I value her, and she is a big part of our life. Not only is she the best darn Pediatric Nurse you will ever find, she's a wonderful, very special friend
Health Library - Shwachman Syndrome shwachman syndrome. Disorder Subdivisions. None. General Discussion. Shwachmansyndrome is a rare genetic disorder with multiple and varied manifestations. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
