Shwachman–Diamond syndrome
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Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal and cardiac abnormalities and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children. It is associated with the SBDS gene and has autosomal recessive inheritance.
Quick Facts Other names, Specialty ...
Shwachman–Diamond syndrome | |
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Other names | Shwachman–Bodian–Diamond syndrome |
Shwachman–Diamond syndrome is inherited in an autosomal recessive pattern. | |
Specialty | Medical genetics |
Prognosis | five-year survival rate 64% |
Frequency | 122,600 |
Deaths | 21,650 |
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