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.
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: Here I share my Daughter Angelica's life story. Sharing this here, has helped 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 it here. I would take the opportunely to ask those of you who may be grieving the loss of loved ones, or who may be feeling pain or helplessness due to tragedy, to forward your story on the WWW, or, write it down on paper at least. One may shed tears while recalling wonderful and or painful memories. Reflect upon this, that tears are nature's way of washing away the pain, while the positive attributes shared with those whom you Love and cherish, are reinforced. The First Sound...
Shwachman Syndrome - Disease Information First described in 1964, ShwachmanDiamond Syndrome is a rare disease which mainly involves the pancreas, bone marrow and skeleton, but other organs http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Clinical Children with shwachman syndrome may have poorly developed teeth. ShwachmanSyndrome Phenotypic manifestations of sibling sets and isolated cases in a http://www.shwachman.org/clinical.asp
Extractions: This article is a publication of the Communications Committee of Shwachman-Diamond Canada. It has been edited for medical accuracy by members of the Medical Advisory Board.This article may be copied and distributed provided it is distributed in its entirety. Individual sections should not be abstracted and distributed out-of-context. Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder. It affects many organs in the body but the effects are variable; different people have different symptoms. On the basis of current knowledge, all people with SDS appear to have a pancreatic defect and hematologic abnormalities. Many have skeletal abnormalities and short stature. There are a very wide variety of additional complications that can affect some individuals with SDS. It is not known exactly how frequently SDS occurs. Medical researchers estimate that it affects approximately 1 in 50,000 births, but there is no scientific basis for this number because we lack a simple way of establishing the diagnosis. Some physicians think it may be more common than this because certain people with Shwachman syndrome may be mis-diagnosed as having something else. Conversely, some people who have been diagnosed as having SDS may not have it.
Shwachman Diamond Syndrome Foundation ShwachmanDiamond Syndrome Foundation is a national, nonprofit, patient advocacy organization whose goals are to advocate and support research http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Support Groups shwachman syndrome Support Group Contact Elly Koster email koster.e@hccnet.nl Canada, shwachman syndrome Support Contact Karen Campbell http://www.shwachman-diamond.org/support.htm
Shwachman - Diamond Syndrome 2004 A new clinical diagnostic test is now available at The Hospital for Sick Children in Toronto What is ShwachmanDiamond Syndrome? http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Shwachman Syndrome shwachman syndrome is a rare genetic disorder with multiple and varied manifestations. The disorder is typically characterized by signs of http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Shwachman-Diamond America ShwachmanDiamond America, Charity site dedicated to Funding and promoting research in all aspects of Shwachman-Diamond Syndrome (SDS), and to http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: helpful? yes no Cancer is the uncontrolled multiplication of body cells which form a tumour. Many specific conditions come under the term cancer. Leukaemia is the condition in which the bone marrow is taken over by an excess number of immature white cells, which are unable to perform the normal function of white cells in protecting the body from infection. As a result of the proliferation of these primitive cells within the marrow, there is suppression of the production of normal blood cells, resulting in anaemia, susceptibility to infection and bleeding problems, the hallmarks of leukaemia. Both conditions are potentially life threatening. The prognosis has been greatly altered in recent years due to treatment with chemotherapy and radiotherapy. Inheritance patterns Genetic changes within a cell in the body may develop which allow uncontrolled multiplication of that cell and leads to the development of a cancer or leukaemia. The majority of cancers and leukaemias have no inherited component in their cause but some forms of cancer and leukaemia are associated with inherited conditions. Prenatal diagnosis
Shwachman Syndrome A story of a case of ShwachmanDiamond Syndrome and what parents can do http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Shwachman Syndrome / Family Village Library Web http//www.shwachmandiamond.org. Shwachman-Diamond Syndrome SupportInternational is the premier nonprofit support organization helping the victims of 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.
News - Measurement Of Telomere Length Can Diagnose Dyskeratosis others include Fanconi's anemia, DiamondBlackfan anemia, Shwachman-Diamond syndrome, severe congenital neutropenia, thrombocytopenia absent http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Shwachman Syndrome shwachman syndrome is a rare genetic disorder with multiple and varied manifestations.The disorder 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-Diamond Support - Home Page ShwachmanDiamond Syndrome, first described in 1964, is a multi-faceted disorder impacting the pancreas, bone marrow, and skeleton, but other organs http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
IRSC - Rare Disorders, Shwachman Syndrome The Internet Resources for Special Children (IRSC) Global disABILITY resourceis dedicated to communicating information relating to the needs of children http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca
IRSC - Rare Disorders, Shwachman Syndrome The Internet Resources for Special Children (IRSC) Global disABILITY resourceis dedicated to communicating information relating to the needs of children http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca
