Shwachman-Diamond Syndrome (SDS) is an inherited condition typically characterized by low blood counts and digestive problems. Many patients have additional symptoms such as problems with growth, bone abnormalities, and infections.
Most cases of SDS are associated with genetic changes, called mutations, in the SBDS gene. It is possible that additional genes that are not yet identified may also cause SDS. SDS is a rare disorder and our understanding of the medical complications and best treatments remains limited.
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