Shwachman-Diamond syndrome

info · Syndrome · ICD-10: D61.0

A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities.

Signs and symptoms

Proximal femoral metaphyseal irregularity
Anterior rib cupping
Nephrocalcinosis
Metaphyseal widening
Mild intellectual disability
Short stature
Metaphyseal chondrodysplasia
Narrow greater sciatic notch
Hepatomegaly
Failure to thrive

Also known as: Shwachman syndrome; Shwachman-Bodian-Diamond syndrome; Shwachman-Diamond type metaphyseal dysplasia; pancreatic insufficiency and bone marrow dysfunction