Synonym: Shwachman-Bodian Syndrome, congenital lipomatosis of the pancreas
Chromosome location: 7q11.21
Gene affected: SBDS (Shwachman-Bodian-Diamond Syndrome)
Gene product: ribosome maturation protein
Inheritance: typically autosomal recessive
Clinical features:
(1) pancreatic abnormalities
(1a) exocrine pancreatic insufficiency with malabsorption and malnutrition
(1b) lipomatosis of the pancreas
(2) skeletal malformations
(2a) short ribs with asphyxiating thoracic dystrophy
(2b) spondylometaphyseal dysplasia or a metaphyseal dysostosis
(2c) osteopenia
(2d) delayed appearance of secondary ossification centers
(2e) asymmetric growth
(3) hematologic abnormalities
(3a) anemia, thrombocytopenia, neutropenia or pancytopenia
(3b) hypoplastic bone marrow including aplastic anemia
(3c) myelodysplasia
(3d) increased risk for acute leukemia (AML)
(4) growth failure with failure to thrive during infancy and short stature
(5) recurrent infections starting during infancy
(6) hepatomegaly with or without abnormalities of liver function tests
(7) delayed dental development and/or increased caries
(8) variable cognitive and/or behavioral abnormalities
(9) variable renal or urinary tract anomalies
(10) variable skin abnormalities (ichthyosis, eczema)
(11) normal sweat chloride testing
