What is Shwachman-Diamond Syndrome?
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 frequent 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 understanding of the medical complications and best treatment remains limited.
The Shwachman-Diamond Syndrome Registry is a unique resource that promotes science and discovery to improve the diagnosis and treatment of children and adults with Shwachman-Diamond Syndrome.
The SDSR is working in partnership with the Severe Chronic Neutropenia International Registry in Seattle. The SDSR provides an educational resource for patients, families, and healthcare providers.