Autosomal recessive disorder characterised by multiple developmental anomalies:

Poor growth

Exocrine pancreatic insufficiency (2nd most common after cystic fibrosis)

Skeletal abnormalities (eg metaphyseal chondrodysplasia, rib cage dysplasia and osteopenia)

Cognitive impairment

Bone marrow failure and an increased risk of transformation to myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML)