Shwachman-Diamond Syndrome

Definition

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder associated with bone marrow failure and an increased risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).

SDS is characterized by multiple developmental anomalies including poor growth, exocrine pancreatic insufficiency, skeletal abnormalities (metaphyseal chondrodysplasia, rib cage dysplasia and osteopenia), and cognitive impairment.

Introduction

It is first described as “congenital lipomatosis of the pancreas” in 1961 in two children with exocrine pancreatic insufficiency and leukopenia. SDS was named after the US physician Harry Shwachman, the British ophthalmologist Martin Bodian, and the American pediatrician Louis Diamond reported the syndrome in 1964 (Warren 2017).

SDS is a rare disease with estimated prevalence of 1 in 77,000 births; registry data indicate that the phenotypic spectrum is broad. Since the recognition of SDS as a distinct clinical entity in 1961, there...