61. IV SPECIFIC DISABILITIES (continued) shwachman syndrome. shwachman syndrome Support Services. SMITHMAGENIS SYNDROME.PRISMS Parents Researches Interested in Smith-Magenis Syndrome http://pourhouse.com/ramp/ramp4.htm

IV: SPECIFIC DISABILITIES (continued) OBSESSIVE-COMPULSIVE DISORDER OC Foundation OSTEOGENESIS IMPERFECTA Osteogenesis Imperfecta Foundation OXALOSIS HYPEROXALURIA PEUTZ-HEGHERS SYNDROME Hereditary Colon Cancer Registry POLYPOSIS Intestinal Multiple Polyposis and Colorectal Cancer Familial Gastrointestinal Cancer Registry PSORIASIS National Psoriasis Foundation RESPIRATORY PAPILLOMATOSIS, RECURRENT Recurrent Resiratory Papillomatosis Foundation RETT SYNDROME International Rett Syndrome Association SCLERODERMA United Scleroderma Foundation SCOLIOSIS National Scoliosis Foundation SEPTO-OPTIC DYSPLASIA Special Parents Sharing Special Children FOCUS:For our Children's Unique Sight SHWACHMAN SYNDROME Shwachman Syndrome Support Services SMITH-MAGENIS SYNDROME SOTOS SYNDROME Sotos Syndrome USA Support Association Sotos Syndrome Support Association of Canada (SSSAC) Association Canadienne d'entraide du Syndrôme de Sotos (ACESS) SPINAL CORD INJURIES National Spinal Cord Injury Association American Paralysis Association STARGARDT DISEASE Stargardt International and Juvenile macular Dystrophies STUTTERING Stuttering Foundation of America National Stuttering Project National Center for Stuttering SYRINGOMYLEIA ASAP: American Syringomyelia Alliance Project THROMBOCYTOPENIA ABSENT RADIUS (TAR) SYNDROME TAR Association TOURETTE SYNDROME Tourette Syndrome Association TUBEROUS SCLEROSIS Tuberous Sclerosis Canada National Tuberous Sclerosis Association TWIN TO TWIN TRANSFUSION SYNDROME Twin to Twin Transfusion Syndrome Foundation

62. Health Info Strevens MJ, Lilleyman JS, Williams RB Shwachman s syndrome and acute lymphoblastic The occurrence of leukemia in patients with the shwachman syndrome. http://www.pamf.org/health/healthinfo/index.cfm?page=article&sgml_id=ncicdr00000

63. Health Information Resource Database: Shwachman-Diamond Syndrome International The ShwachmanDiamond Syndrome International (formerly shwachman syndrome Support)is a non-profit group that operates on national and international levels. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2515

64. National Cancer Institute - Childhood Acute Lymphoblastic Leukemia Treatment neurofibromatosis,10 shwachman syndrome,11,12 Bloom s syndrome,13 and The occurrence of leukemia in patients with the shwachman syndrome. http://www.cancer.gov/cancertopics/pdq/treatment/childALL/HealthProfessional/pag

var bSearchBoxBool=false; Send to Printer Last Modified: Health Professional Version General Information This cancer treatment information summary provides an overview of the prognosis, diagnosis, classification, and treatment of childhood acute lymphoblastic leukemia (ALL). The National Cancer Institute provides the PDQ pediatric cancer treatment information summaries as a public service to increase the availability of evidence-based cancer information to health professionals, patients, and the public. These summaries are updated regularly according to the latest published research findings by an Editorial Board of pediatric oncology specialists. Cancer in children and adolescents is rare. Children and adolescents with cancer should be referred to medical centers that have a multidisciplinary team of cancer specialists with experience treating the cancers that occur during childhood and adolescence. This multidisciplinary team approach incorporates the skills of the primary care physician, pediatric surgical subspecialists, radiation oncologists, pediatric medical oncologists/hematologists, rehabilitation specialists, pediatric nurse specialists, social workers, and others in order to ensure that children receive treatment, supportive care, and rehabilitation that will achieve optimal survival and quality of life. Refer to the PDQ Supportive Care summaries for specific information about supportive care for children and adolescents with cancer.

65. UpToDate Primary Disorders Of Phagocytic Function Intrinsic disorders of chemotaxis include the hyperIgE syndrome, leukocyteadhesion defects, shwachman syndrome, and syndromes with periodontitis. http://patients.uptodate.com/topic.asp?file=bas_imm/10466

66. Healthfinder® — Shwachman-Diamond Syndrome International - SSS The ShwachmanDiamond Syndrome International (formerly shwachman syndrome Support)is a non-profit group that operates on national and international levels. http://www.healthfinder.gov/orgs/HR2515.htm

Help Advanced Search News Library ... Organizations Shwachman-Diamond Syndrome International - SSS Organization URL(s) 4sskids@shwachman-diamond.org www.shwachman-diamond.org Other Contact Information 710 Brassie Drive Grand Junction, CO 81506 877-SDS-INTL (Voice - Toll-free) 614-939-2324 (Voice) 970-255-8293 (FAX) Description The Shwachman-Diamond Syndrome International (formerly Shwachman Syndrome Support) is a non-profit group that operates on national and international levels. The purpose of the organization is to support families dealing with this rare disease, to advocate research, disseminate medical information and raise public awareness. Print Resources Books, pamphlets and periodicals/newsletters are available. Italian, Dutch and French language materials are also available. There is no charge for items. Related Topics Patient Advocacy Rare Diseases Schwachman Syndrome Disease Registry Review Date Wed Sep 22, 2004 About Us Accessibility Freedom of Information Act Privacy ... Office of Disease Prevention and Health Promotion,

67. Health Library - 12.42.224.150/library/healthguide/enus/illnesscon Hematologic abnormalities in Shwachman Diamond syndrome lack of shwachman syndrome phenotypic manifestations of sibling sets and isolated casesin a large Aplastic anemia associated with the shwachman syndrome. http://12.31.13.113/library/healthguide/en-us/illnessconditions/topic.asp?hwid=n

68. Indian Pediatrics - Review Articles shwachman syndrome was described in 1963 by Shwachman(53). A case of Shwachmansyndrome with increased spontaneous chromosome breakage. http://www.indianpediatrics.net/june2000/june-615-625.htm

Home Past Issue About IP About IAP ... Subscription Review Articles Indian Pediatrics 2000;37: 615-625 Recent Advances in Chromosome Breakage Syndromes and Their Diagnosis Roli Mathur Madhumita Roy Chowdhury Geeta Singh From the Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India. Reprint requests: Dr. Roli Mathur, Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India. Manuscript received: July 2, 1999; Initial review completed: September 2, 1999; Revision accepted: December 24, 1999. d by more than one gene. The diagnosis of these syndromes is made by the characteristic clinical features specific to each disease, but the definitive diagnosis is achieved by laboratory investigations such as cytogenetic, biochemical and molecular methods. The importance of prenatal diagnosis and our experience are discussed in this article. Key-words: Ataxia telangiectasia, Bloom syndrome, Cockayne syndrome, Chromosome instability syndrome, Chromosome breakage, Chromosomal aberrations, DNA repair, Fanconi anemia, Nijmegan breakage syndrome, Trichothiodystrophy, Xeroderma pigmentosum.

69. Arch Dermatol -- Abstract: Ichthyosis, Exocrine Pancreatic Insufficiency, Impair The shwachman syndrome comprises exocrine pancreatic insufficiency, growthretardation, and bone marrow hypoplasia resulting in neutropenia. http://archderm.ama-assn.org/cgi/content/abstract/127/2/225

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 127 No. 2, February 1991 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Goeteyn M van Suijlekom-Smit LW Contact me when this article is cited Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings) M. Goeteyn, A. P. Oranje, V. D. Vuzevski, R. de Groot and L. W. van Suijlekom-Smit Department of Dermatovenereology, Erasmus University, Rotterdam, The Netherlands. The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical

70. Abstract Chromosome 7 instability and myelodysplasia in shwachman syndrome A significantproportion of patients of shwachman syndrome (SS), an autosomic http://web.feccbologna.it/2_16.htm

ABSTRACT Chromosome 7 instability and myelodysplasia in Shwachman syndrome MP Cecchini , E Maserati , M Stefanelli , B Crescenzi , C Matteucci , A Minelli , C Mecucci , F Lo Curto , F Pasquali Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dell’Insubria, Varese, Italy Emato-Oncologia Pediatrica, Ospedale Silvestrini, Perugia, Italy Ematologia, Università di Perugia, Perugia, Italy Genetica Medica, Università di Pavia, Pavia, Italy A significant proportion of patients of Shwachman Syndrome (SS), an autosomic recessive disorder, develop a Myelodysplastic Syndrome (MDS) and/or Acute Myeloid Leukaemia (AML). Most of these show typical chromosome changes in the bone marrow (BM), as anomalies of chromosome 7 (isochromosome i(7q) is frequent), and deletion del(20)(q11). We reviewed 8 cases of SS with chromosome 7 anomalies in their BM, and 3 out of 6 cases with del(20)(q11), who did not develop MDS/AML. We report two cases of SS without MDS/AML, with specific clonal BM anomalies, and showing signs of karyotype instability with rearrangements of chromosome 7 in peripheral blood (PB) cells. Case 1: MF, male, born in 1992. Chromosome and FISH analyses on BM consistently showed the isochromosome i(7q) since 1999; different analyses on PB PHA-stimulated cultures showed a small clone with a pericentric inversion of a chromosome 7, in 2000, and cells with different structural rearrangements of the 7, in 2001. Case 2: PM, male, born in 1988. BM chromosome and FISH analyses consistently showed a deletion del (20)(q11), which included the minimal deleted region of MDS, in 2000-2002. PB cultures disclosed one single cell with the isochromosome i(7q), in 2002.

71. Treatment Of Shwachman Syndrome By Japanese Herbal Medicine (Juzen-Taiho-To): St Key Words shwachman syndrome · Fatty acids · Herbal medicine. Susumu Ikehara,MD, Ph.D., First Department of Pathology, Kansai Medical University, http://stemcells.alphamedpress.org/cgi/content/abstract/20/4/311

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Reprints/Permissions PubMed PubMed Citation Articles by Hisha, H. Articles by Ikehara, S. Stem Cells 2002;20:311-319 www.StemCells.com AlphaMed Press Treatment of Shwachman Syndrome by Japanese Herbal Medicine (Juzen-Taiho-To): Stimulatory Effects of Its Fatty Acids on Hemopoiesis in Patients Hiroko Hisha a ,b ,c Urara Kohdera d Masahiro Hirayama f Haruki Yamada g Tomoko Iguchi-Uehira e Tian-Xue Fan a Yun-Ze Cui a Guo-Xiang Yang a Yongan Li a Kikuya Sugiura a ,b ,c Muneo Inaba a ,b ,c Yohnosuke Kobayashi b ,c ,d Susumu Ikehara a ,b ,c a First Department of Pathology, b Transplantation Center, c Regeneration Research Center for Intractable Diseases, d Department of Pediatrics, and

72. Treatment Of Shwachman Syndrome By Japanese Herbal Medicine (Juzen-Taiho-To): St Patients with shwachman syndrome show not only diarrhea due to exocrine We discuss the relationship between fatty acids and shwachman syndrome. http://stemcells.alphamedpress.org/cgi/content/full/20/4/311

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Reprints/Permissions PubMed PubMed Citation Articles by Hisha, H. Articles by Ikehara, S. Stem Cells 2002;20:311-319 www.StemCells.com AlphaMed Press Treatment of Shwachman Syndrome by Japanese Herbal Medicine (Juzen-Taiho-To): Stimulatory Effects of Its Fatty Acids on Hemopoiesis in Patients Hiroko Hisha a ,b ,c Urara Kohdera d Masahiro Hirayama f Haruki Yamada g Tomoko Iguchi-Uehira e Tian-Xue Fan a Yun-Ze Cui a Guo-Xiang Yang a Yongan Li a Kikuya Sugiura a ,b ,c Muneo Inaba a ,b ,c Yohnosuke Kobayashi b ,c ,d Susumu Ikehara a ,b ,c a First Department of Pathology, b Transplantation Center, c Regeneration Research Center for Intractable Diseases, d Department of Pediatrics, and

73. Feedback Form is a primary feature of shwachman syndrome and correction of nutritional status and Children with shwachman syndrome may have poorly developed teeth. http://www.shwachmandiamondamerica.org/content/clinical.htm

Reprinted with permission of SDS-Canada 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. Introduction Primary features of Shwachman-Diamond Syndrome Hematologic abnormalities Pancreatic defect Skeletal abnormalities Small stature at all ages, poor growth in childhood Other, less consistent, features of Shwachman-Diamond Syndrome Dental Liver Eating habits Kidney Eye Problems Skin Problems in Infancy Early Development Heart problems The genetics of Shwachman-Diamond Syndrome The Diagnosis of Shwachman-Diamond Syndrome FOR FURTHER INFORMATION Summary articles Large case series Back to top Introduction 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.

74. Shwachman Syndrome Translate this page Questa è una sintesi sulle caratteristiche della Sindrome di Shwachman. I soggetti con la Sindrome di Shwachman hanno una varietà di sintomi. http://web.genie.it/utenti/g/gargano/shwachman.html

INFORMAZIONI SULLA SINDROME DI SHWACHMAN a cura della Associazione Italiana Sindrome di Shwachman - AISS Caratteristiche comuni della Sindrome di Shwachman sono insufficienza pancreatica, carenza di globuli bianchi e bassa statura. Sintomi comuni della Sindrome di Shwachman sono feci abbondanti e frequenti, infezioni che talvolta possono essere gravi. Trattamenti comuni per la Sindrome di Shwachman includono enzimi pancreatici quando occorre normalizzare la digestione e antibiotici per le infezioni. INTRODUZIONE CAUSE CARATTERISTICHE PRINCIPALI DELLA SINDROME DI SHWACHMAN Le caratteristiche considerate "primarie" di questa malattia sono quelle che possono sopravvenire come diretto risultato della Sindrome di Shwachman. Cioè si presume che un singolo errore genetico causi problemi in diversi organi. MIDOLLO OSSEO Il midollo osseo produce diversi tipi di cellule sanguigne. I globuli bianchi combattono le infezioni. I neutrofili sono un tipo di globuli bianchi che hanno la funzione di combattere i batteri. I globuli rossi trasportano ossigeno in ogni parte del corpo. Le cellule che contribuiscono alla coagulazione del sangue si chiamano piastrine. I soggetti con Sindrome di Shwachman hanno il midollo osseo che non funziona sempre in modo corretto. Altri problemi ematologici meno comuni includono la carenza di piastrine (trombocitopenia), carenza di globuli rossi (anemia o carenza di tutte le cellule del sangue (pancitopenia).

75. Haematology/Oncology Research shwachman syndrome Research Fund Cellular Biology of ShwachmanDiamond Syndrome shwachman syndrome Marrow Failure (Co-investigator) CURRENT YEAR $25000 http://www.utoronto.ca/paedadm/research/hofund78.htm

Haematology/Oncology - 1997/98 Grants M. Andrew S. Baruchel V. Blanchette E. Boyle ... S. Weitzman M. Andrew Medical Research Council of Canada (Project Grant) Thrombin regulation by fetal lung epithelium (Principal Investigator) TERM: 1993-98 Heart and Stroke Foundaton of Ontario The fibrinolytic system during childhood: Physiologic and Pathologic States (Principal Investigator) TERM: 1997-98 Medical Research Council of Canada Mechanisms, prevention, and treatment of thrombotic complications in children. (Principal Investigator) TERM: 1995-2000 Top of Page S. Baruchel Servier International Centre de Recherche Phase I Study of Fotemustine in Recurrent Malignant Brain Tumors. (Principal Investigator) CURRENT YEAR: $40,500 TERM: 1997-1999 The Hospital for Sick Children Modulation of ICE Toxicity with Amifostine in recurrent solid tumors. (Principal Investigator) CURRENT YEAR: $19,500 TERM: 1997-1999 Eli Lilly Canada: Pharmacokinetics of Amifostine in Pediatric Oncology (Principal Investigator) CURRENT YEAR: $15,000 TERM: 1998-1999 Cytogen Corporation Phase I study of Samarium in bone metastatic solid tumours - A multicentre North American Study (Principal Investigator) CURRENT YEAR: $70,000

76. DoXYs - Digestive System Diseases shwachman syndrome. shwachman syndrome OMIM, NCBI (US); shwachman syndromeSupport Page - Western Ontario (CA). Top Doxys Home Back http://www.growing.com/doxys/gastro.html

Go to: [ Learning Center Pegasys Home Page Digestive System Diseases GENERAL GASTROINTESTINAL REFERENCES Documents on Digestive Diseases for Patients - NIDDK (US) Gastroenterology - Family Practice Handbook, University of Iowa (US) Interactive Gastrointestinal Medicine Case Study - University of Tennessee (US) Liver Segmental Anatomy - University of Iowa (US) Normal Gallbladder - University of Utah WebPath (US) Salivary Glands and Exocrine Pancreas - Vanderbilt Histology Lessons (US) Your Liver, A Vital Organ - American Liver Foundation (US) BILIARY TRACT DISEASES Gallstones Gallstones and Laparascopic Cholecystectomy - NLM Consensus Conference (US) Gallstones: Fact Sheet - NIH via Med Help Int'l, FL (US) Gall Stones: MRI - St Pauls Hospital (CA) GASTROINTESTINAL DISEASES Appendicitis Acute appendicitis, focal, ulcerating - Urbana Atlas of Pathology (US) Case: A 27 year old female - Mater Hospital (AU) Subacute Appendicitis - St Pauls Hospital (CA) Celiac Disease Celiac Disease - (US) Celiac Disease FAQ - (US) Celiac Diseases - Los Alamos National Laboratory (US) Celiac Disease Page - via hooked.net (US)

77. Informagene - Dizionario Shwachman-Diamond Syndrome Nature Genetics Ginzber H., Shin J., Ellis L. et al “shwachman syndrome phenotypic http://www.telethon.it/informagene/dettaglio_malattia.asp?id=49

78. Kataweb Salute, Per Vivere Bene shwachman syndrome phenotypic manifestationsof sibling sets and isolated cases in a large patient cohort are similar . http://www.kwsalute.kataweb.it/Scheda/0,1056,417,00.html

Scrivi alla redazione Contatti generatorflash('http://www.kataweb.it/static/images/ticker_triple.swf','770','30','FFFFFF','6,0,0,0','6','','noticker'); Per un corretta visualizzazione del sito consulta la pagina dei requisiti di sistema venerdi 09 settembre 2005 Le sezioni del sito BENESSERE No ai botox party Combattiamo il caldo con frutta e verdura La palestra in riva al mare MALATTIE Gioco d'azzardo malattia sommersa Ictus: agire subito per limitare i danni FARMACI Leucemia: nuove speranze dal Glivec Mensile e ad anello, la rivoluzione della pillola MEDICINE NON CONVENZIONALI L'aglio, da alimento a farmaco Bambini più intelligenti dopo le lezioni di musica Anorgasmia: c'è un rimedio omeopatico? Curarsi con la medicina indiana PSICOLOGIA E SESSUALITA' Un pacemaker per riprendere il ritmo della vita Alla ricerca del piacere MAMMA E BAMBINO Un modo dolce per prepararsi al parto Guerra alla carie RICERCA Infarto, le staminali corrono in aiuto del cuore Laser, il regalo di Einstein alla medicina DISABILITA' Se la protesi non funziona Quando il gesso è l'unica soluzione FORUM Mission Impossible: smettere di fumare Arriva la pillola per abortire MALATTIE Sei in kwsalute Malattie Indice Malattie P-Z La scheda Sindrome di Shwachman - SINDROME DI SHWACHMAN ALTRI NOMI: Sindrome di Shwachman - Diamond NOME INGLESE: Shwachman Syndrome FREQUENZA: da 1/10.000 a 1/200.000 (mancanza di dati epidemiologici attendibili)

79. Maladies Rares, Maladies Orphelines ShwachmanDiamond Syndrome see shwachman syndrome shwachman syndrome Sialic AcidStorage Disease see Mucopolysaccharide Diseases and associated diseases http://www.fmo.easynetonline.net/anciensite/listcaf.html

Maladies rares maladies orphelines ATTENTION : VOUS ETES SUR L'ANCIEN SITE DE LA FEDERATION DES MALADIES ORPHELINES Vous pouvez vous diriger vers le nouveau site en cliquant - ici Retour Liste Contact A Family 2 Hydroxglutaric Aciduria see Metabolic Diseases 4 Hydroxybutyric Aciduria see Metabolic Diseases 2-Methylacetoacetyl-CoA Thiolase Deficiency see Metabolic Diseases 3-Hydroxy Acyl CoA Dehydrogenase Deficiency see Metabolic Diseases 3-Hydroxy-Methylglutaril CoA Lyase Deficiency see Organic Acidaemias 3-Methylglutaconic Aciduria see Metabolic Diseases 4p-Syndrome see Wolf-Hirschhorn Syndrome 5 Alpha Reductase Deficiency see Metabolic Diseases 5-Oxoprolinuria see Metabolic Diseases 21 Hydroxylase Deficiency see Congenital Adrenal Hyperplasia aAA see Acquired Aplastic Anaemia ADA see Primary Immune Deficiencies ADD see Attention Deficit Hyperactivity Disorder ADHD see Attention Deficit Hyperactivity Disorder ADL see Adrenoleukodystrophy AIDS see HIV Infection and AIDS AMC see Arthrogryposis ASD see Heart Defects ATR-X see Alpha Thalassaemia/Mental Retardation on the X Chromosome Abdominal Exstrophies Abetalipoproteinaemia see Metabolic Diseases Achondroplasia see Restricted Growth Acne Acne Vulgaris see Acne Acquired Aplastic Anaemia Acrodermatitis Enteropathica see Metabolic Diseases Acrofacial dysostosis see Nager Syndrome Acute Idiopathic Polyneuritis see Guillain-Barré Syndrome and other Neuropathies Acute Inflammatory Polyneuropathy see Guillain-Barré Syndrome and other Neuropathies

80. Shwachman Diamond Syndrome Foundation 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. http://www.shwachman-diamond.org/

SHWACHMAN-DIAMOND SYNDROME FOUNDATION Formerly known as: Shwachman-Diamond Syndrome International Please take note of New Address and Name change 710 Brassie Drive Grand Junction, Colorado 81506 U.S.A. Toll Free 877-737-4685 or (614) 939-2324 Fax (970) 255-8293 WEB: www.shwachman-diamond.org Email: 4sskids@shwachman-diamond.org What is SDSF: Shwachman -Diamond Syndrome Foundation is a national, nonprofit, patient advocacy organization whose goals are to advocate and support research towards a cure and improve medical management of symptoms as well as to link families for emotional support and supply them with the most current medical information available which is provided through the knowledge and cooperation of our professional, medical advisory board. This is the only official website for Shwachman-Diamond Syndrome Support Foundation. a 501(c)(3) tax exempt organization under U.S. Internal Revenue Code. All medical information on this site is approved by medical advisors. We are not responsible for the accuracy of any medical information on Shwachman-Diamond Syndrome provided by any other website. Our Mission: Advocate and support research towards a cure and improve medical management of symptoms Educate the medical community and general public about Shwachman-diamond Syndrome Provide emotional support to patients and their families Link families through medical/family conferences to share experiences and ideas

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