1. SHWACHMAN-DIAMOND SYNDROME A definition of Shwachman-Diamond syndrome, the epidemiology, pathogenesis, clinical features, investigat Category Health Conditions and Diseases shwachman syndrome......Pediatric Database (PEDBASE); Discipline GEN; Last Updated 3/15/96SHWACHMANDIAMOND SYNDROME. DEFINITION A rare disorder characterized http://www.icondata.com/health/pedbase/files/SHWACHMA.HTM

Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 3/15/96 SHWACHMAN-DIAMOND SYNDROME DEFINITION: A rare disorder characterized by exocrine pancreatic insufficiency, metaphyseal dysostosis, and a congenital form of neutropenia (+/- pancytopenia). EPIDEMIOLOGY: incidence: rare (over 200 cases worldwide) age of onset: infancy risk factors: familial - autosomal recessive chrom.#: ? gene: ? PATHOGENESIS: 1. Background etiology unknown but it is considered to be one of at least 4 disorders characterized by congenital pancytopenia other congenital pancytopenias: Dubowitz Syndrome Dyskeratosis Congenita Syndrome Fanconi Anemia considered a rare form of osteochondrodysplasia 2. Genetic Defect CLINICAL FEATURES: 1. Pancreatic Insufficiency first manifestation and apparent early in infancy (mean between 7-9 months of age) malabsorption - steatorrhea, diarrhea, protruberant abdomen, failure to thrive 2. Pancytopenia 1. Neutropenia(>95% of cases) usually detected in infancy or early childhood chronic, intermittent, cyclic skin and mucous membrane infections pneumonia (chronic cough) 2. Anemia (>20% of cases)

2. Shwachman Diamond Syndrome International Also known as shwachman syndrome, ShwachmanBodian Syndrome Burke Syndrome. SHWACHMAN-DIAMOND SYNDROME http://www.shwachman-diamond.org/

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3. 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

Sunday, 29th October UK Conference, England. For information:- Kimwright@tesco.net Shwachman-Diamond Syndrome Information Site 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.... What is Shwachman Syndrome? Shwachman Bibliography Shwachman Diagnostic Checklist What is Shwachmans? - Dr K Campbell, Canada ... Convomania The information contained within this site is provided to promote contacts and for educational purposes. Please consult a qualified doctor for diagnosis and treatment. Site Author Keith Richardson, England Email krichardson1@compuserve.com

4. 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

Best viewed @ 1024 X 768 screen resolution Only a few days old. What a hard road this little Angel was to travel. Not because she's mine, but she truly is the most beautiful new born I had ever set my eyes upon! 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.

5. 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

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.

6. Shwachman Syndrome shwachman syndrome Support Group. (ShwachmanDiamond Syndrome, Shwachman-Bodian Syndrome, Burke Syndrome). Shwachman 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) Shwachman-Diamond Syndrome European Union Link Network Neutropenia Support Association To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised December 16, 2001 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

7. 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

Shwachman Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Shwachman Syndrome" Who to Contact Shwachman Syndrome Support 35-31 Talcottville Road, Suite 126 Vernon, Connecticut 06066-4311 E-mail: 4sskids@mvp.net Includes Johansen-Blizzard Syndrome, Cartilage-Hair Hypoplasia People in need of someone to talk to should call their office or email them and they can put them in touch with others. Where to Go to Chat with Others We are unaware of any discussion forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See General Disability On-Line Discussion Groups Learn More About It Detailed information about Shwachman Syndrome Shwachman Syndrome - From OMIM Shwachman Syndrome Web Sites Shwachman Syndrome Support Web Site Shwachman Diamond Information Website Shwachman Diamond Friends Web Site Back to [ S - T Family Village Home Library Coffee Shop ... Information Last Updated May 6, 1999 by

8. 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

9. 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

Other Related Sites Support Groups: Shwachman-Diamond Syndrome Support- International Shwachman Syndrome Support- Australia Shwachman-Diamond Syndrome European Union Link Network Shwachman Diamond Friends ... Canadian Association of Rare Disorders Research Sites: Rommens Lab - The Hospital for Sick Children Severe Chronic Neutropenia International Registry General Information Websites: OMIN - Online Mendelian Inheritance in Man (SDS article available) NORD - National (USA) Organization for Rare Disorders (SDS article available) Pedbase-Pediatric Database (SDS article available) PedInfo - Pediatric Information MUMS-Mothers United for Moral Support Home Clinical Features of SDS ... Discussion List ] [Other Related Sites] [ En Francais Web Administrator: Joanne Mariani

10. 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

Home Page Shwachman Syndrome Bibliography Alphabetic listing on publication title 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

11. 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

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 SCID see Primary Immunodeficiencies SED see Restricted Growth SIDS see Cot Death SLE see Lupus SMA see Spinal Muscular Atrophy SOD see Septo-Optic Dysplasia SSPE see Subacute-Sclerosing Panencephalitis S-adenosylhomocysteine hydolase deficiency see Saccade Initiation Failure see Congenital Ocular Motor Apraxia Sacral Agenesis Saethre-Chotzen see Craniofacial Conditions Sagital Craniosynostosis see Craniofacial Conditions Salaam attacks see West Syndrome Sandhoff's Disease see Metabolic Diseases Sanfilippo see Mucopolysaccharide Diseases and associated diseases Santavuori Disease see Batten Disease Santavuori-Haltia Disease (infantile) see Batten Disease Sarcoidosis see Lung Diseases Scapulohumeral Dystrophy see Muscular Dystrophy and neuromuscular disorders Scapuloperoneal Dystrophy see Muscular Dystrophy and neuromuscular disorders Schilder's Disease see Adrenoleukodystrophy Scheie see Mucopolysaccharide Diseases and associated diseases Scheurmanns Disease see Perthes Disease Schilder's Disease see

12. 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

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 PMB #162 New Albany, OH 43054-8331 Toll Free 877-SDS-INTL FAX 614-939-0752 Email: 4sskids@shwachman-diamond.org Check out this Christmas card that was made by a child with SDS. Click on Card for details on how you can help our kids

13. 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

Specific Diagnoses (S - T) S Sanfillippo Syndrome See Mucopolysaccharidosis Schizophrenia Scleroderma Scoliosis ... Shaken Baby Syndrome Short-Chain Acyl-CoA Dehydrogenase Deficiency See Fatty Oxidation Disorders Short Stature See Growth Disorders Shprintzen Syndrome See Velo-Cardio-Facial Syndrome (VCFS) Shwachman Syndrome Shy Drager Syndrome Sickle Cell Disease ... Spinal Muscular Atrophy Steinert's Disease See Myotonic Muscular Dystrophy Stevens Johnson Syndrome Stickler Syndrome Sturge-Weber Syndrome ... Syringomyelia T Tay-Sachs Disease TEF-VATER See VATER Association Thalassemia Thrombocytopenia Absent Radius Syndrome (TAR) Thyroid Disorders ... Tracheostomy Traumatic Brain Injury See Brain Injury Treacher Collins Syndrome Tremor Trichotillomania ... Trisomy 13/18 Trisomy 21 See Down Syndrome Tuberous Sclerosis Turner Syndrome Twin-to-Twin Transfusion Syndrome Back to [ Specific Diagnoses Card Catalog A - B C - D E - F ... Information Last updated Monday, July 01, 2002 by rowley@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/card_st.htm

14. 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

Disease Information 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. GENERAL FEATURES 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.

15. Shwachman Syndrome Support International Formerly shwachman syndrome Intl. Also known as shwachman syndrome,ShwachmanBodian Syndrome Burke Syndrome. SHWACHMAN-DIAMOND http://www.xmission.com/~nobull/

Formerly Shwachman Syndrome Intl. SHWACHMAN-DIAMOND SYNDROME INTERNATIONAL 5195 Hampsted Village Ctr. Way PMB #162 New Albany, OH 43054-48331 Toll Free 877-SDS-INTL FAX 614-939-0752 Email: 4sskids@shwachman-diamond.org 3rd International Conference Click Here for Registration Form 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.

16. 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

17. 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

Latest Health News Find Drug Information Health Calculators All Words Any Words A B C D ... Z Sunday, March 30, 2003 Alternative therapy struggles to bridge East-West divide Click here to read more Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment Click here to read more A helping hand for uninsured; Agencies find ways to provide health care for area children Click here to read more The government has approved the first generic version of the acne drug, Accutane Click here to read more Gates to give India $100m for AIDS; Microsoft CEO begins controversy-laced trip to fight virus Click here to read more Allergies and Asthma Alternative Medicine Arthritis and Your Health ... Women's Health Monday March 31, 2003 Spina Bifida: Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

18. 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 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

19. 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

Having a child with Shwachman Syndrome has definantly changed our lives. We both agree that we have become more patient, have more compassion for others and as a couple it has drawn us closer, and we've become more of a team 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 Speaking of wonderful friends, I have made many wonderful friends who's children also have SDS, Lisa, Darlene, and Karen and many more other parents..I value each friendship, and thank God for each and every one of 'em...

20. 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=

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