Is Hirschsprung's disease inherited ?
Is Hirschsprung's disease inherited? Hirschsprung's disease (HSCR) usually occurs occurs by itself without other symptoms and is called isolated HSCR. Isolated HSCR has multifactorial inheritance, which means that multiple genes interact with environmental factors to cause the condition. When someone has a child with isolated HSCR, the overall risk to have another child with the condition is 4%. There are some factors that can change the risk. For example, the risk is higher if the sibling has long-segment disease rather than short-segment disease. Also males are more likely than females to develop HSCR. Another factor is if the siblings have the same or different parents.  If HSCR occurs as part of a genetic syndrome, then it is inherited in a specific pattern. For example, the inheritance may be autosomal recessive, autosomal dominant, or X-linked recessive, depending on the exact cause of the syndrome.  Individuals who are interested in learning about their personal risks or risks to family members should speak with their health care provider or a genetics professional.