The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Nausea and vomiting||90%|
|Neoplasm of the thyroid gland||7.5%|
|Sensorineural hearing impairment||7.5%|
|Abnormality of enteric ganglion morphology||-|
|Autosomal dominant inheritance||-|
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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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