What is the life expectancy of a person with Shwachman Diamond Syndrome?
Gene testing for Shwachman Syndrome is now available (see below under Genetics and Molecular Biology). PROBLEM: LIFE EXPECTANCY EXPECTATIONS: The calculated mean survival is about 35 years. This is likely an underestimate. However, there is considerable risk for life-taking complications at all ages.
What are the symptoms of Shwachman Diamond Syndrome?
Summary. Shwachman-Diamond syndrome (SDS) affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. Symptoms include the inability to digest food due to missing digestive enzymes , low muscle tone, and anemia . Other symptoms include skeletal findings and intellectual disability .
What causes Shwachman Diamond Syndrome?
Shwachman-Diamond syndrome is caused by mutations in a gene called SBDS. It takes two copies of the defective gene – one copy from each parent – to cause the disease. In most cases, the parents show no signs of the syndrome. Genetic tests can identify the precise mutation in about 90 percent of children with SDS.
Is there a cure for Shwachman Diamond Syndrome?
The only curative therapy for individuals with Shwachman syndrome is a hematopoietic stem cell transplant (HSCT). Hematopoietic stem cells are specialized cells found in the bone marrow (the soft spongy material found in long bones).
What is Gardner Diamond syndrome?
Introduction: Gardner-Diamond Syndrome (GDS), also known as psychogenic purpura, is a rare disorder characterized by unexplained recurrent painful bruising typically arising after physical and/or psycho-emotional stress.
Is there a disease that makes you cry diamonds?
Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and bones.
What is Pearson syndrome?
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death.
What is kostmann syndrome?
Listen to pronunciation. (KOST-mun SIN-drome) An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections).
How is Bloom syndrome inherited?
Inheritance. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Why is it called Diamond Blackfan anemia?
What Causes Diamond-Blackfan Anemia? Diamond-Blackfan anemia, also known as acquired pure red cell aplasia, is usually diagnosed when a child is less than a year old. It’s caused by changes, or mutations, in their genes, which are the building blocks of DNA.
What is Fanconi anemia?
Fanconi anemia is a rare disease passed down through families (inherited) that mainly affects the bone marrow. It results in decreased production of all types of blood cells. This is the most common inherited form of aplastic anemia. Fanconi anemia is different from Fanconi syndrome, a rare kidney disorder.
What is cyclic neutropenia?
Description. Collapse Section. Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils .