21. Shwachman Syndrome shwachman syndrome is a rare genetic disorder with multiple and varied manifestations.The disorder is typically characterized by signs of insufficient http://www.bchealthguide.org/kbase/nord/nord371.htm

var hwPrint=1;var hwDocHWID="nord371";var hwDocTitle="Shwachman Syndrome";var hwRank="1";var hwSectionHWID="nord371-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Shwachman Syndrome Important It is possible that the main title of the report Shwachman Syndrome 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. Synonyms Shwachman-Diamond Syndrome Pancreatic Insufficiency and Bone Marrow Dysfunction Shwachman-Bodian Syndrome Lipomatosis of Pancreas, Congenital Shwachman-Diamond-Oski Syndrome Disorder Subdivisions None General Discussion 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.

22. Johanson Blizzard Syndrome shwachman syndrome is an extremely rare inherited disorder characterized byinsufficient shwachman syndrome has autosomal recessive inheritance. http://www.bchealthguide.org/kbase/nord/nord1089.htm

var hwPrint=1;var hwDocHWID="nord1089";var hwDocTitle="Johanson Blizzard Syndrome";var hwRank="1";var hwSectionHWID="nord1089-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Johanson Blizzard Syndrome Important It is possible that the main title of the report Johanson Blizzard Syndrome 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. Synonyms JBS Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Cong. Deafness Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia Disorder Subdivisions None General Discussion Johanson-Blizzard Syndrome (JBS) is an extremely rare inherited disorder characterized by an unusually small nose that appears "beak shaped" due to absence (aplasia) or underdevelopment (hypoplasia) of the nostrils (nasal alae); abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary (permanent) teeth; and/or unusually sparse, dry, coarse scalp hair that tends to have a distinctive "upsweep" in the forehead area. In addition, affected infants may have a low birth weight, demonstrate signs of insufficient intestinal absorption (malabsorption) of fats and other nutrients due to abnormal development of the pancreas (exocrine pancreatic insufficiency), and fail to grow and gain weight at the expected rate (failure to thrive) during the first years of life, contributing to short stature.

23. Shwachman Syndrome Shwachman ShwachmanDiamond information, resources, and links to national andinternational support groups, clinics with genetic counselors and geneticists. http://www.kumc.edu/gec/support/shwachma.html

Shwachman Syndrome Support Group (Shwachman-Diamond Syndrome, Shwachman-Bodian Syndrome, Burke Syndrome) Shwachman Syndrome Support International 5195 Hampsted Village Ctr. Way, PMB #162 New Albany, OH 43054-8331 Phone: 877.SDS.INTL or 614.939.2324 Fax: 614.939.0752 E-mail: 4sskids@shwachman-diamondorg Shwachman-Diamond, Canada http://www.shwachman.org Shwachman-Diamond America 459 Berkshire Dr Damville, VA 24541 Phone: 434.822.1747 Web site: www.shwachmandiamondamerica.org Shwachman Diamond Syndrome (German) Also See: National organizations with information on genetic conditions or birth defects Pancreatic Insufficiency and Bone Marrow Dysfunction , Online Mendelian Inheritance in Man (OMIM) Neutropenia Support Association To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised September 2, 2004 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

24. Hill Health Topics A-Z - Shwachman Syndrome shwachman syndrome. National Organization for Rare Disorders. Important It ispossible that the main title of the report shwachman syndrome is not the name http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord371&SE

25. Shwachman Syndrome - St. Joseph Mercy, Ann Arbor Michigan shwachman syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor,SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/15586.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Shwachman Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Shwachman Syndrome 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. Synonyms Shwachman-Diamond Syndrome Pancreatic Insufficiency and Bone Marrow Dysfunction Shwachman-Bodian Syndrome Lipomatosis of Pancreas, Congenital Shwachman-Diamond-Oski Syndrome Disorder Subdivisions None General Discussion 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.

26. SupportPath.com: Shwachman Syndrome SupportPath.com leads you to Internet resources for supportrelated informationon hundreds of health, personal, and relationship topics. http://www.supportpath.com/sl_s/shwachman_syndrome.htm

Shwachman Syndrome About Us Add-A-Link Email Gallery ... here Online Communities / Message Boards... None Listed Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. None Listed Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... None Listed National / International Organizations... None Listed Note: Groups are listed alphabetically by U.S. state and then country. None Listed None Listed Professional Organizations of Interest... None Listed ClinicalTrials.gov: Shwachman Syndrome Website: http://www.clinicaltrials.gov/ct/gui/action/SearchAction;jsessionid=30D04480426902E3D365296639C6A0A1?term=Shwachman+Syndrome Description: Search results for "Shwachman Syndrome" from the National Institutes of Health (NIH). Date Added: 07/23/2002 Miscellaneous Links... None Listed Books about Shwachman Syndrome and Related Topics... None Listed (The following search link is offered in association with Amazon.com

27. Shwachman Syndrome shwachman syndrome Support Australia - provides information and support to families shwachman syndrome Support Group - provides disease information, http://www.ability.org.uk/Shwachman_Syndrome.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Shwachman Syndrome Shwachman Syndrome Support - Australia - provides information and support to families and people with Shwachman Syndrome. Shwachman Syndrome Support Group - provides disease information, advocates research and assistance to families. Shwachman Syndrome Support Network Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

28. Shwachman Syndrome : Genetic Disorders : Disorders And Diseases : Health And Fit shwachman syndrome (Subscribe) ShwachmanDiamond Syndrome International http//www.shwachman-diamond.org/. Support organization helping the victims of http://www.internet-web-directory.com/Health_and_Fitness/Disorders_and_Diseases/

Skip to Content Login/Register Web Directory by Internet-Web-Directory.com Web Directory Home ... Link Notify Search the entire directory only this category Advanced Search Web Directory Health and Fitness Disorders and Diseases ... Genetic Disorders Shwachman Syndrome Shwachman Syndrome Subscribe Links Shwachman-Diamond America http://shwachmandiamondamerica.org Profiles SDA, a nonprofit that educates doctors and families about shwachman-diamond syndrome and also supports research. More Details Review It Rate It Bookmark It ... http://www.shwachman-diamond.org/ Support organization helping the victims of this disease. Provides a network for families to receive information, advocacy, and emotional support, and keep abreast of the most current medical information available. More Details Review It Rate It Bookmark It Sponsor Links Love Romance Dating Gift Ideas at Gifts-Shop.com Internet-Web-Directory.com

29. Kprones ShwachmanID1058 A case of shwachman syndrome with increased spontaneous chromosome breakage. Immune function in patients with ShwachmanDiamond syndrome. http://www.infobiogen.fr/services/chromcancer/Kprones/ShwachmanID1058.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Shwachman-Diamond Syndrome (SDS) Identity Inheritance Autosomal recessive inheritance. Male to female ratio 1.7 : 1 Clinics Note Bone marrow failure syndrome with exocrine pancreatic dysfunction and growth retardation, many phenotypic features often present at birth. Phenotype and clinics Intermittent neutropenia is the most common haematological finding (85-100%); in addition aplastic anemia (80%), increased hemoglobin F levels (80%), thrombocytopenia (25-85%) and impaired neutrophil chemotaxis, B- and T-cell defects can be found. Fluctuating or persistent exocrine pancreatic dysfunction (with low serum amylase in 50-75%, low serum trypsinogen in 70-98% and abnormal pancreatic stimulation test in nearly 100%), Growth retardation (shortness 60%, weight 50%, microcephalus Other manifestations include delayed puberty, rib and thoracic bone abnormalities 30-50%, metaphyseal dysostosis 50-75%, dental dyplasia, hepatomegaly 10-60%, elevated liver transaminases 50-75%, Ichtyosis severe and recurrent viral, bacterial and fungal infections 50-75% and developmental delay. Neoplastic risk The risk for AML in SDS is estimated to be 15-25%.

30. Riley-Shwachman Syndrome (www.whonamedit.com) Rileyshwachman syndrome A condition in which osseous changes are combined withhyperreflexia. http://www.whonamedit.com/synd.cfm/3258.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Riley-Shwachman syndrome Associated persons: Conrad Milton Riley Harry Shwachman Description: A condition in which osseous changes are combined with hyperreflexia. The symptoms include a peculiar gait with stiff legs, a wide base, calcaneal limp, and ankle clonus. Also anorexia, emaciation and excessive fatigability. Originally described in two children. Aetiology unknown. Bibliography: C. M. Riley, H. Shwachman: Unusual osseous disease with neurologic changes; report of two cases. American Journal of Diseases of Children, 1943, 66: 150-154.

31. Shwachman Syndrome shwachman syndrome Rev Gastroenterol Mex 1996; 61(4) 371375. Backgroundshwachman syndrome has been recognized as the second most frequent cause of http://www.imbiomed.com/Gastro/Gav61n4/english/Zge64-13.html

Zárate-Mondragón FE, Ramírez MJA, Bustamante RC et al Shwachman syndrome Rev Gastroenterol Mex Shwachman syndrome ABSTRACT Background: Shwachman syndrome has been recognized as the second most frequent cause of pancreatic insufficiency in children and it is related to hematological and bony anormalities. Aims: To know the main clinical symptoms, analitical data, radiological and sonographic findings in the Shwachman syndrome. Materials and methods: We present a 1 year 4 months old girl with Shwachman syndrome. We reviewed the clinical history taking into consideration height weight relationship according to percentiles and physical examination. Analytical data: blood counts, fetal hemoglobin, vitamin B12 and folate levels, bone marrow examination, stool cultures and examination for ova and parasites, transaminase levels, sweat electrolytes, serologic tests for viral hepatitis. Radiological studies: bone series and bone age, abdominal sonography and computed tomography. Liver and intestinal biopsies. Results: In this patient we confirmed the presence of exocrine pancreatic insufficiency, dysfunction of the bone marrow and bony anormalities tipical in Shwachman syndrome.

32. IDR Factfile For Shwachman Syndrome , ShwachmanDiamond syndrome is characterized by exocrine pancreatic Shwachman-Diamond Syndrome, National Organisation for Rare Disorders...... http://dna.uta.fi/xml/idr/FF84.xml

General information Disease Shwachman syndrome Alternative names: SDS; Pancreatic insufficiency and bone marrow dysfunction; Shwachman Bodian Diamond syndrome; Shwachman Diamond syndrome; Lipomatosis of pancreas, congenital Description Shwachman syndrome is characterized by exocrine pancreatic insufficiency, hematologic abnormalities, including increased risk of malignant transformation, and skeletal abnormalities. Males and females are affected with equal frequency. Classification Defects of Phagocyte Function Inheritance Autosomal recessive OMIM Shwachman-Diamond syndrome; SDS SBDS gene; SBDS Incidence Incidence is not known. Clinical information Description Infants often become ill with symptoms by the age of four or six months old. Early problems include failure to thrive, loose, foul-smelling, greasy stools, feeding problems and recurrent infections. The bone marrow in which blood cells are produced is also affected. White blood cells may be low in number and/or not function properly. Anemia and problems with blood clotting may be present. 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. A typical hyposignal in T2 is showed on magnetic resonance imaging (MRI). Other clinical signs include bone defects with metaphyseal dysostosis, pectus carinatum, cutaneous deffects like ichtyosis, and psychomotor retardation. Hematological disturbances like neutropenia with lowered chemotaxis, thrombopenia and anaemia worsens and evolves toward aplasia.

33. Ailments Directory Shwachman Syndrome Ailments Directory. shwachman syndrome. ShwachmanDiamond Syndrome Support Network Back to Main Ailments Index Disability UK Europes leading information http://www.disabilityuk.com/masterpages/ailments/s5medic.htm

Match ALL words Match ANY word Ailments Directory Shwachman Syndrome Shwachman-Diamond Syndrome Support Network Back to Main Ailments Index

34. Shwachman Syndrome Synonyms, Eastern Carolina shwachman syndrome Synonyms University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/114237.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Shwachman Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Shwachman Syndrome 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. Synonyms Shwachman-Diamond Syndrome Pancreatic Insufficiency and Bone Marrow Dysfunction Shwachman-Bodian Syndrome Lipomatosis of Pancreas, Congenital Shwachman-Diamond-Oski Syndrome Disorder Subdivisions None General Discussion 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.

35. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ The CaF Directory A definition of shwachman syndrome, its inheritance pattern, shwachman syndrome - A mothers story to diagnose this disorder before a http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Shwachman Syndrome Subtopics See Also: Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats Health: Conditions and Diseases: Rare Disorders Search Google: Shwachman Syndrome News Books Links ... UF Scientist Finds Unexpected Link Between Cat And Human AIDS Viruses (September 9, 2005) full story Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005)

36. Psychological Characteristics Of Children With Shwachman Syndrome -- Kent Et Al. Twelve children and young adults with shwachman syndrome were compared with their There was no evidence that those with shwachman syndrome had more http://adc.bmjjournals.com/cgi/content/abstract/archdischild;65/12/1349

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Kent, A Articles by Milla, P PAPERS Psychological characteristics of children with Shwachman syndrome A Kent, GH Murphy and P Milla Hospital for Sick Children, London. Twelve children and young adults with Shwachman syndrome were compared with their unaffected siblings and with controls suffering from cystic fibrosis in terms of intellectual ability, motor skills, and behaviour. There were highly significant differences in intelligence quotient between those with Shwachman syndrome and the other two groups. Four of the index subjects but

37. Learning From Genetic Research shwachman syndrome affects the pancreas ability to digest food (exocrine Much of what is known about Shwachman s Syndrome comes from clinical studies http://www.genet.sickkids.on.ca/rommens/article.html

Sign Guestbook Home Johanna Rommens Staff ... Links learning from genetic research An international web of links between The Hospital for Sick Children and 300 patients in 15 countries is bringing new hope to 16-year-old Ian Browning and others with a relatively rare genetic syndrome. From The Hospital for Sick Children Foundation Annual Report 1997-1998 Ian Browning, of West Hill, Ontario, a voracious reader who's looking into a career in computer animation, was diagnosed with Shwachman's Syndrome at 20 months. At the time, his mother, Lynn, recalls, they knew no one else with the syndrome which was identified in 1964. Today, the Brownings communicate by E-mail with some of the 200 other families who belong to Shwachman Syndrome Support International , started four years ago by Joan Mowery of St. Louis, Missouri, whose daughter, Michele, 35, is one of the oldest surviving patients. Gastroenterologist Peter Durie of HSC sits on a professional advisory board for the support group. Families from the support group from many countries are participating in a new genetic study at Sick Kids aimed at unraveling the mysteries of the little-understood syndrome. An estimated 1 in 50,000 persons is born with Shwachman's, which appears, on average, in one of four children when both parents carry the abnormal gene. Lynn Browning finds it encouraging that so many people on different continents are now sharing information and taking part in studies.

38. Rommens Lab - Links Learning from Genetic Research an article about shwachman syndrome The SecondInternational Congress on Shwachman-Diamond Syndrome (Toronto, 2003) http://www.genet.sickkids.on.ca/rommens/links.html

Home Johanna Rommens Research Staff ... Publications Links The Hospital for Sick Children The Research Institute , The Hospital for Sick Children The Centre for Applied Genomics , The Hospital for Sick Children Centre for Computational Biology , The Hospital for Sick Children The University of Toronto , University of Toronto Canadian Institutes of Health Research Centres of Excellence - Canadian Genetic Diseases Network National Institute of Health Shwachman-Diamond Syndrome Canada Inc. ... Shwachman-Diamond Support UK The SDS gene has been identified. Read the press release . (Dec. 23, 2002) Read answers to frequently asked questions about the SDS gene. Learning from Genetic Research - an article about Shwachman Syndrome Research from the HSC Foundation Annual Report 1997-98. The Second International Congress on Shwachman-Diamond Syndrome (Toronto, 2003) Shwachman-Diamond Syndrome Canada Inc. Shwachman-Diamond Syndrome International Shwachman-Diamond Support UK Shwachman-Diamond America ... History and clinical description of CF (from OMIM) Blazing a Genetic Trail (recommended) : A report from the Howard Hughes Medical Institute. This is an easy-to-understand explanation of genetic, molecular biology, inheritance, mapping of disease genes, gene therapy, etc. The discovery of cystic fibrosis gene is used as an example. (Dr. Rommens was a part of the HSC team which discovered the CF gene).

39. Shwachman Syndrome ThirdAid.com the world s first dedicated online patient to patient medical helpcommunity. http://www.thirdaid.com/conditions/Shwachman_Syndrome.htm

40. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Conditions Graft Versus Host Disease; Neutropenia; shwachman syndrome; RedCellAplasia, Pure; Osteopetrosis. 2. Recruiting, Cancer in Inherited Bone http://www.clinicaltrials.gov/ct/gui/screen/BrowseAny?path=/browse/by-condition/

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