Open access
Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry
Jane Koo
Melissa Gerstle
Leah Cheng
Richard Cooper
Katherine Coyne
C. Dusa
Naomi E. Joffe
Diana Schwarz
Sarah K Steltz
Akiko Shimamura
K. Myers
Thea Quinton
Medicine
Abstract
Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment.