Genetic and Non-genetic Risk for Hirschsprung Disease

Hirschsprung disease is a condition that occurs when nerve cells that are normally present in the intestine do not form properly while a baby is developing during pregnancy.  Areas without nerve cells do not work well causing intestinal blockage that can be dangerous. The abdomen may become swollen and children can have green or yellow vomiting, fever, and poor growth.  Symptoms may be evident at birth. Most children are diagnosed within the first few months of life, but it is not uncommon for the diagnosis to be made in older children. About 1:5000 children are born with Hirschsprung disease and it is 4 times more common in boys than in girls. Some children with Hirschsprung disease have other medical problems like Down syndrome, but most children with Hirschsprung disease do not have other serious medical problems.

The purpose of this study is to learn more about genetic problems and environmental factors that may be related to Hirschsprung disease and associated birth defects. Studies suggest that environmental factors including nutrition, medications, and health problems in parents might influence disease risk. By studying genetic and environmental risk factors, we may find ways to reduce the risk of these serious medical  problems in future pregnancies.

The study began as a collaboration between researchers at Washington University School of Medicine St. Louis (WUSTL) and the Slone Epidemiology Center. The lab activities coordinated by Dr. Heuckeroth include analyzing DNA samples, studying the of potential teratogenic effects of various medications identified in animal models, and review of medical records. In July of 2013, Dr. Heuckeroth joined the staff of the Children’s Hospital of Philadelphia (CHOP) and these research activities have been transferred to CHOP.

Slone is conducting telephone interviews to gather pregnancy health information from the mothers of infants enrolled in the study.

Investigators and Study Staff

Allen A. Mitchell, M.D.
Slone Epidemiology Center

Robert Heuckeroth, M.D., Ph.D.
Irma and Norman Braman Endowed Chair for Research in GI Motility Disorders
The Children’s Hospital of Philadelphia Research Institute

Study Details

Sources of Funding:

Burroughs Wellcome Fund

Study Period:

2010 to 2015

Contact Information

Dawn Jacobs, R.N., M.P.H., Project Coordinator
(617) 734-6006

Participant Information:

(866) 896-1097 (toll free-bilingual English/Spanish line)