Other Names for this Disease
- Aganglionic megacolon
- Hirschsprung disease 1
- Hirschsprung disease type 1
- HSCR 1
Your QuestionI 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.
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
There are a number of different causes of Hirschsprung disease (HSCR). For example, HSCR may occur as:
- A part of a syndrome
- In association with a chromosome anomaly (such as trisomy 21 or Down syndrome)
- Along with other birth defects but not as a part of a known syndrome
- As an isolated condition
Down syndrome is usually not inherited, but occurs due to a random event during the formation of reproductive cells (egg or sperm) when an extra copy of chromosome 21 is passed on through the egg or sperm. You may be interested in learning more about general risk factors for this type of Down syndrome at the MayoClinic Web site. To visit the page click here.
Less commonly, a parent may carry a rearrangement of their chromosomes that increases their chance of having a child with Down syndrome as well as fertility problems and miscarriages. Click here to read more about this type of Down syndrome, called translocation Down syndrome.
A genetic professional can review your son and daughter-in-law's family history to help assess their specific chances of having a child with Down syndrome.
- The relationship of the relative to the affected individual (e.g., sibling, parent...)
- The affected individual's gender
- The relative's gender
- The severity of HSCR (e.g., long segment vs. short segment disease)
- Also the family's medical and testing history
Once again a genetic professional can help assess your children's, and their future offspring’s, risk for HSCR. Family history information (and where possible medical records) can be very important in assessing this risk.
- Bardet-Biedl syndrome
- Cartilage-hair hypoplasia
- Familial dysautonomia
- Fryns syndrome
- Goldberg-Shprintzen syndrome
- Intestinal neuronal dysplasia
- L1 syndrome
- Multiple endocrine neoplasia type 2A & 2B
- Mowat-Wilson syndrome
- Neurofibromatosis type 1
- Smith-Lemli-Opitz syndrome
- Waardenburg syndrome type 4
- Congenital central hypoventilation syndrome
These syndromes have many other signs and symptoms. When HSCR occurs as part of a syndrome, inheritance risk will depend on the parent syndrome's mode of inheritance.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Melissa A Parisi. Hirschsprung Disease Overview. GeneReviews. November 10, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1439/.