Important It is possible that the main title of the report Shwachman Diamond 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.
lipomatosis of pancreas, congenital
pancreatic insufficiency and bone marrow dysfunction
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.
In addition, as a result of bone marrow dysfunction, individuals with Shwachman syndrome may have a decrease in any or all types of blood cells. Therefore, they may have low levels of certain white blood cells (neutropenia), platelets (thrombocytopenia), red blood cells (anemia), and/or all types of blood cells (pancytopenia). Neutropenia is the most common blood abnormality associated with Shwachman syndrome. Because neutrophils, a type of white blood cell, play an essential role in fighting bacterial infections, many affected individuals are prone to repeated bacterial infections (e.g., recurrent respiratory infections [pneumonia] and infections of the middle ear [otitis media]); in some cases, infections may be severe.
Some affected individuals may also have abnormal enlargement of the liver (hepatomegaly), increased levels of certain liver enzymes in the blood, and/or other findings in association with the disorder. Shwachman syndrome is believed to be inherited as an autosomal recessive trait.
Shwachman-Diamond Syndrome Foundation 127 Western Avenue Sherborn, MA 01770 USA Tel: (888)825-7373 Fax: (888)825-7373 Tel: (888)825-7373 Email: email@example.com Internet: http://www.shwachman-diamond.org
National Neutropenia Network P.O. Box 1693 Brighton, MI 48116 USA Tel: (517)294-0736 Email: firstname.lastname@example.org Internet: http://www.neutropenianet.org
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse One AMS Circle Bethesda, MD 20892-3675 USA Tel: (301)495-4484 Fax: (301)718-6366 Tel: (877)226-4267 TDD: (301)565-2966 Email: NIAMSinfo@mail.nih.gov Internet: http://www.niams.nih.gov/
NIH/National Heart, Lung and Blood Institute P.O. Box 30105 Bethesda, MD 20892-0105 Tel: (301)592-8573 Fax: (301)251-1223 Email: email@example.com Internet: http://www.nhlbi.nih.gov/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases Office of Communications & Public Liaison Bldg 31, Rm 9A06 31 Center Drive, MSC 2560 Bethesda, MD 20892-2560 Tel: (301)496-3583 Email: NDDIC@info.niddk.nih.gov Internet: http://www2.niddk.nih.gov/
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
For a Complete Report
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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