GTR Home > Conditions/Phenotypes > Shwachman syndrome

Disease characteristics

Excerpted from the GeneReview: Shwachman-Diamond Syndrome
Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multi-lineage cytopenia and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common.

Associated genes

Clinical features

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  • Small for gestational age
  • Neutropenia
  • Thrombocytopenia
  • Enlargement of the costochondral junction
  • Coxa vara
  • Persistence of hemoglobin F
  • Recurrent infections
  • Short stature
  • Short thorax
  • Ovoid vertebral bodies
  • Gait disturbance
  • Type I diabetes mellitus
  • Irregular ossification at anterior rib ends
  • Narrow sacroiliac notch
  • Microdontia
  • Cognitive impairment
  • Carious teeth
  • Myelodysplasia
  • Failure to thrive
  • Reduced bone mineral density
  • Nephrocalcinosis
  • Pectus carinatum
  • Narrow chest
  • Eczema
  • Intellectual disability, mild
  • Global developmental delay
  • Specific learning disability
  • Myocardial necrosis
  • Exocrine pancreatic insufficiency
  • Pancytopenia
  • Macrocytic anemia
  • Hepatomegaly
  • Steatorrhea
  • Neonatal respiratory distress
  • Scoliosis
  • Delayed skeletal maturation
  • Elevated hepatic transaminases
  • Acute myeloid leukemia
  • Bone marrow hypocellularity
  • Metaphyseal chondrodysplasia
  • Proximal femoral epiphysiolysis
  • Ichthyosis
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