Hirschsprung disease

HSCR usually 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.^[1] Click here for more information on genes associated with isolated HSCR.

If HSCR occurs as part of a genetic syndrome, then it is inherited in a specific pattern, according to the specific syndrome. For example, the inheritance may be autosomal recessive, autosomal dominant, or X-linked recessive, depending on the exact cause of the syndrome.^[1] 

In about 12% of the cases HSCR is part of a chromosome anomaly, such as Down syndrome.

Individuals who are interested in learning about their personal risks or risks to family members should speak with their doctors or a genetics professional.

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.