This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
Intestinal blockage[ more ]
|Nausea and vomiting||0002017|
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
Inward turned thumb
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
|Sensorineural hearing impairment||0000407|
Decreased body height
Small stature[ more ]
|Percent of people who have these symptoms is not available through HPO|
Bloating[ more ]
|Abnormality of enteric ganglion morphology||0004362|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My youngest son was born with Hirschsprung's disease. I am now with a different partner and just found out that I am expecting another child. I am wondering about how this disease is passed on. I understand that some children have no family history yet are still afflicted. Is there a genetic component? Is it passed through the mother or the father? And finally, is this disorder more common in males? See answer
I lost a daughter in the late 70's due to complications from long segment Hirschsprung disease. I also lost a little sister when she was 6 months-old. She had Down syndrome, a heart defect, cleft lip and cleft palate, and a single kidney. Are these conditions related? My children are thinking about starting a family of their own. They would like to learn more about risks to their future offspring. See answer
Is there any genetic link between trisomy 13, dextrocardia with situs inversus, and Hirschsprung's disease? I have had children affected with each of these conditions. What are the chances of having more children affected with these conditions in the future? See answer
How can I learn more about the pull-through operation for Hirschsprung disease? I am considering this procedure for my son. See answer