National Organization for Rare Disorders, Inc.
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.
- Shwachman-Diamond Syndrome
- Pancreatic Insufficiency and Bone Marrow Dysfunction
- Shwachman-Bodian Syndrome
- Lipomatosis of Pancreas, Congenital
- Shwachman-Diamond-Oski Syndrome
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
National Neutropenia Network
PO Box 1693
Brighton, MI 48116
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Neutropenia Support Association, Inc.
971 Corydon Avenue
P.O. Box 243
Manitoba, R3M 3S7
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html