Shwachman Diamond Syndrome is a rare genetic disorder characterized by bone marrow dysfunction, pancreatic insufficiency, and skeletal abnormalities. It affects multiple systems in the body, leading to various complications. While the exact prevalence is not well-established, it is estimated to occur in approximately 1 in 50,000 to 1 in 100,000 individuals worldwide. This syndrome primarily affects children, with symptoms typically appearing in infancy or early childhood. Early diagnosis and management are crucial for optimizing outcomes and improving quality of life for individuals with Shwachman Diamond Syndrome.
Shwachman Diamond Syndrome (SDS) is a rare genetic disorder that affects multiple organ systems, primarily the bone marrow, pancreas, and skeletal system. It is characterized by a range of symptoms including bone marrow dysfunction, pancreatic insufficiency, and skeletal abnormalities. SDS is typically diagnosed in early childhood, although it can sometimes be identified in infancy or even adulthood.
The prevalence of Shwachman Diamond Syndrome is estimated to be around 1 in 75,000 to 1 in 100,000 individuals worldwide. However, due to its rarity and potential underdiagnosis, the true prevalence may be higher. SDS is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. The specific gene associated with SDS is called SBDS.
SDS can present with a wide range of symptoms and severity, making it challenging to diagnose. Common symptoms include growth delay, recurrent infections, malabsorption, and skeletal abnormalities such as short stature and rib abnormalities. Early diagnosis and appropriate management are crucial for optimizing outcomes and improving quality of life for individuals with SDS.