ShwachmanDiamondSyndrom
Shwachman-Diamond syndrome, often abbreviated SDS, is a rare inherited bone marrow failure syndrome characterized by exocrine pancreatic insufficiency, skeletal abnormalities, and variable hematologic manifestations. It is caused by biallelic pathogenic variants in the SBDS gene and is inherited in an autosomal recessive manner.
Clinical features typically present in infancy or early childhood. Exocrine pancreatic insufficiency leads to malabsorption and
Diagnosis is based on a combination of clinical features and confirmatory genetic testing. A high index of
Management is multidisciplinary and supportive. Pancreatic enzyme replacement and nutrition management address malabsorption. Infections are treated