Shwachman-Diamond SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Shwachman-Diamond Syndrome
Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and bones.
Mutations in the SBDS gene have been identified in about 90 percent of people with the characteristic features of Shwachman-Diamond syndrome. This gene provides instructions for making a protein that is critical in building ribosomes. Ribosomes are cellular structures that process the cell's genetic instructions to create proteins. SBDS gene mutations reduce the amount or impair the function of the SBDS protein. It is unclear how these changes lead to the major signs and symptoms of Shwachman-Diamond syndrome. Researchers suspect that a shortage of functional SBDS impairs ribosome formation, which may reduce the production of other proteins and alter developmental processes.
Shwachman-Diamond syndrome is a rare condition that is thought to occur in approximately 1 in 80,000 newborns. Because the signs and symptoms are variable and can be mild in some affected individuals, doctors suspect the condition is underdiagnosed.
Most cases of Shwachman-Diamond syndrome, including those caused by mutations in the SBDS gene, are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Typically, the parents of the affected individual each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition. In some cases, one parent does not carry a copy of the mutated gene. Instead a new (de novo) mutation occurs in the gene during the formation of reproductive cells (eggs or sperm) in the parent or during early embryonic development.
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Stella Davies is a Hematologist and an Oncologist practicing medicine in Cincinnati, Ohio. Dr. Davies is rated as an Elite provider by MediFind in the treatment of Shwachman-Diamond Syndrome. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Congenital Aplastic Anemia, Fanconi Anemia, Shwachman-Diamond Syndrome, Bone Marrow Transplant, and Bone Graft.
Policlinico GB Rossi
Simone Cesaro practices practicing medicine in Verona, Italy. Ms. Cesaro is rated as an Elite expert by MediFind in the treatment of Shwachman-Diamond Syndrome. She is also highly rated in 35 other conditions, according to our data. Her clinical expertise encompasses Infantile Neutropenia, Shwachman-Diamond Syndrome, Hemophagocytic Lymphohistiocytosis, Bone Marrow Transplant, and Bone Graft.
Vince Lombardi Cancer Clinic
Timothy Goggins is a Hematologist and an Oncologist practicing medicine in Germantown, Wisconsin. Dr. Goggins is rated as an Advanced provider by MediFind in the treatment of Shwachman-Diamond Syndrome. He is also highly rated in 38 other conditions, according to our data. His clinical expertise encompasses Non-Hodgkin Lymphoma, Colorectal Cancer, Familial Colorectal Cancer, and Testicular Yolk Sac Tumor. Dr. Goggins is board certified in American Board Of Internal Medicine, Hematology.
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-...
Summary: Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like patients share clinical features with SDS but lack mutations in known SDS genes. Since SDS/SDS-Like syndromes are rare diseases, data are sparse regarding the clinical features, natural history, clinical outcomes with current management, and tr...
Published Date: March 01, 2020
Published By: National Institutes of Health