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Shwachman-Diamond syndrome

Congenital Malformations and Chromosomal Abnormalities

Shwachman-Diamond syndrome, also called 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 it is the second most common cause of exocrine pancreatic insufficiency in children. The condition is associated with the SBDS gene and is inherited in an autosomal recessive pattern. The Wikipedia lead is brief, so this entry records only what that lead supports, and further detail on presentation, diagnosis and management is left to later research.

Facts
Classification
Body System
Lymphatic or Immune System 1
Body System
Digestive System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 4
First Described
1964 3
Sources
1. National Library of Medicine: MeSH Descriptor Data: Shwachman-Diamond Syndrome
National Library of Medicine
  • MeSH tree number C06.689.276.500
    An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY ; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia).
  • MeSH tree number C15.378.190.223.500.875
    An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY ; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia).
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2. World Health Organization: ICD-10 Version:2019 - Q38-Q45 Other congenital malformations of the digestive system
World Health OrganizationCategory Q45.3
Quote, Category Q45.3
Q45.3 Other congenital malformations of pancreas and
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3. Shwachman-Diamond syndrome (Wikipedia)
  • Lead: disease category
    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.
  • Article text
    The disease was first described as a coherent clinical entity in May 1964 by Bodian, Sheldon, and Lightwood.
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4. Shwachman-Diamond syndrome (Wikipedia)
Lead, first paragraph
Quote, Lead, first paragraph
It is associated with the SBDS gene and has autosomal recessive inheritance.
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