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.
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A family with two children affected by Shwachman-Diamond syndrome. Includes information about the condition and on support groups.
Summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling and molecular genetics.
Katie has Shwachman-Diamond Syndrome and needs a bone barrow transplant. Find disease information and links to support organizations.
Offers a general discussion, the synonyms and further resources.
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.
Summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling and molecular genetics.
A family with two children affected by Shwachman-Diamond syndrome. Includes information about the condition and on support groups.
Katie has Shwachman-Diamond Syndrome and needs a bone barrow transplant. Find disease information and links to support organizations.
Offers a general discussion, the synonyms and further resources.
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.
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July 7, 2022 at 5:25:05 UTC
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- Recently edited by cherel
- Recently edited by cherel