Hirschsprung disease-ganglioneuroblastoma syndrome

Hirschsprung disease-ganglioneuroblastoma syndrome is a rare genetic disorder that occurs due to a developmental defect during embryogenesis. It is characterized by a lack of nerve cells in part or all of the colon (aganglionosis), which can affect bowel movements. Additionally, it is associated with neuroblastic tumors, such as ganglioneuroblastoma, neuroblastoma, and ganglioneuroma. In some cases, the condition may also include symptoms of congenital central hypoventilation syndrome. This means that there may be issues with breathing, along with other signs of autonomic nervous system dysfunction, such as cardiovascular and eye-related symptoms. The presentation and severity of these symptoms can vary among people with this condition.

People with this condition may experience difficulties with bowel movements due to the lack of nerve cells in the colon. There may also be signs of neuroblastic tumors. Some individuals might have breathing difficulties related to congenital central hypoventilation syndrome, and in certain cases, cardiovascular and eye-related symptoms can occur. However, the specific symptoms and their severity can vary.

Hirschsprung disease-ganglioneuroblastoma syndrome is a genetic disorder that arises from a developmental defect during embryogenesis. This defect leads to total or partial colonic aganglionosis and is associated with peripheral neuroblastic tumors. The exact genetic mechanisms and risk factors are not detailed in the available information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.