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.
  • Angelica A mother's story of how she diagnosed Shwachman syndrome before a team of doctors could.
  • Curran Family Website A family with two children affected by Shwachman-Diamond syndrome. Includes information about the condition and on support groups.
  • GeneReviews: Shwachman-Diamond Syndrome Summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling and molecular genetics.
  • Katie's Journey Katie has Shwachman-Diamond Syndrome and needs a bone barrow transplant. Find disease information and links to support organizations.
  • NORD: Shwachman Syndrome Offers a general discussion, the synonyms and further resources.
  • Shwachman-Diamond America Profiles SDA, a nonprofit that educates doctors and families about shwachman-diamond syndrome and also supports research.
  • Shwachman-Diamond Syndrome Family/Friends An email list for families, friends, parents and individuals affected by Shwachman-Diamond Syndrome.
  • Shwachman-Diamond Syndrome International 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.
  • The CaF Directory A definition of Shwachman syndrome, its inheritance pattern, pre-natal diagnosing and a support group in the United Kingdom.

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