Shwachman–Diamond syndrome

Shwachman–Diamond syndrome
Other namesShwachman–Bodian–Diamond syndrome
Shwachman–Diamond syndrome is inherited in an autosomal recessive pattern.
SpecialtyMedical genetics 
Prognosisfive-year survival rate 64%
Frequency122,600
Deaths21,650

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.