Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

J Pediatr. 1999 Jul;135(1):81-8. doi: 10.1016/s0022-3476(99)70332-x.


Objectives: With the use of clinical data from a large international cohort, we evaluated and compared affected siblings and isolated cases.

Study design: Data from 116 families were collected, and patients conforming to our predetermined diagnostic criteria were analyzed. Phenotypic manifestations of affected siblings and singletons were compared with the use of t tests, Wilcoxon scores, and chi2 analysis.

Results: Eighty-eight patients (33 female, 55 male; median age 5.20 years) fulfilled our predetermined diagnostic criteria for Shwachman syndrome; 63 patients were isolated cases, and 25 affected siblings were from 12 multiplex families. Steatorrhea was present in 86% (57 of 66), and 91% (78 of 86) displayed a low serum trypsinogen concentration. Patients older than 4 years more often had pancreatic sufficiency. Neutropenia occurred in 98%, anemia in 42%, and thrombocytopenia in 34%. Myelodysplasia or cytogenetic abnormalities were reported in 7 patients. Short stature with normal nutritional status was a prominent feature.

Conclusions: Clinical features among patients with Shwachman syndrome varied between patients and with age. Similarities in phenotype between isolated cases and affected sibling sets support the hypothesis that Shwachman syndrome is a single disease entity.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bacterial Infections / epidemiology
  • Bone Diseases, Developmental / epidemiology
  • Bone Diseases, Developmental / genetics
  • Celiac Disease / epidemiology
  • Celiac Disease / genetics
  • Child
  • Child, Preschool
  • Cohort Studies
  • Exocrine Pancreatic Insufficiency / epidemiology
  • Exocrine Pancreatic Insufficiency / genetics*
  • Female
  • Growth Disorders / epidemiology
  • Growth Disorders / genetics
  • Hematologic Diseases / epidemiology
  • Hematologic Diseases / genetics*
  • Hepatomegaly / epidemiology
  • Hepatomegaly / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neutropenia / epidemiology
  • Neutropenia / genetics
  • Nuclear Family
  • Phenotype*
  • Statistics, Nonparametric
  • Syndrome
  • Trypsinogen / blood


  • Trypsinogen