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Shwachman-Diamond disease

MIM.260400

Wednesday 3 September 2008

Definition: Shwachman-Diamond syndrome (SDS) is an autosomal recessive syndrome characterized by bone marrow failure, pancreatic exocrine insufficiency, skeletal defects, an increased risk of hematologic cancers and abnormal telomere shortening.

Mutations in the gene SBDS are found in >90% of patients with SDS. Indirect evidence suggests that the SBDS gene product may function in RNA metabolism.

There is no evidence of a reduction in telomerase activity in lymphocytes from SDS patients or a physical interaction between the SBDS gene product and the telomerase complex of hTR and hTERT.

Synospsis

- Autosomal recessive
- Short stature
- Low birth weight
- Failure to thrive
- Myocardial necrosis
- Respiratory distress in neonatal period
- Narrow thorax
- Ribs, sternum, clavicles, and scapulae
- Costochondral thickening
- Irregular ossification at anterior rib ends
- Hepatomegaly
- Exocrine pancreatic insufficiency
- Pancreatic lipomatosis
- Severe fat maldigestion
- Steatorrhea
- Nephrocalcinosis
- Delayed skeletal maturation
- Ovoid vertebral bodies
- Coxa vara
- Narrow sacroiliac notch
- Slipped capital femoral epiphyses
- Metaphyseal chondrodysplasia of long bones
- Learning disabilities
- Developmental delay
- Mild mental retardation
- Pancytopenia
- Persistent or intermittent neutropenia
- Anemia
- Thrombocytopenia
- Elevated fetal hemoglobin
- Myelodysplasia
- Acute myelogenous leukemia
- Abnormal liver function tests
- Abnormal fecal fat
- Decreased serum trypsinogen
- Increased susceptibility to infection
- Moderate age-related improvement of pancreatic function
- Broad range in severity of presentation in sibships
- Caused by mutation in the SBDS gene (SBDS, 607444.0001)