Megacystis microcolon intestinal hypoperistalsis syndrome
- Berdon syndrome
- MMIH syndrome
Your QuestionA few years ago I lost a daughter to megacystis microcolon intestinal hypoperistalsis (MMIH) syndrome. I now have a son and hope that he is fine. I would like to know if it is possible for my son to get this disease? If this is a genetic problem? How I can prevent a future pregnancy from developing this syndrome? and My chances to have a daughter without MMIH syndrome? Also, a relative of mine was recently diagnosed with leukemia. Is leukemia and MMIH syndrome related?
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Questions on this page
- What is megacystis microcolon intestinal hypoperistalsis syndrome?
- What causes megacystis microcolon intestinal hypoperistalsis syndrome?
- What are the symptoms of megacystis microcolon intestinal hypoperistalsis syndrome?
- Can boys get megacystis microcolon intestinal hypoperistalsis syndrome?
- I have lost a daughter to megacystis microcolon intestinal hypoperistalsis syndrome. I have since had an infant son. Can my son get this syndrome?
- Is megacystis microcolon intestinal hypoperistalsis syndrome genetic?
- Is genetic testing for megacystis microcolon intestinal hypoperistalsis syndrome currently available?
- How can I prevent having a future pregnancy with megacystis microcolon intestinal hypoperistalsis syndrome? What are my chances of having a daughter without this syndrome?
- A relative of mine was recently diagnosed with leukemia. Are leukemia and megacystis microcolon hypoperistalsis syndrome related?
Autosomal recessive inheritance is when two changed or mutated copies of the gene that causes a disorder are present in each cell. An affected person usually has unaffected parents who each carry a single copy of the mutated gene (and are referred to as carriers). Autosomal recessive disorders are typically not seen in every generation of an affected family. When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will be affected.
The following online resources can also 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.
- Wangler MF. ACTG2-Related Disorders. GeneReviews. June 11, 2015; http://www.ncbi.nlm.nih.gov/books/NBK299311/. Accessed 8/19/2015.
- Mc Laughlin D, Puri P. Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int. September 2013; 29(9):947-951.
- López-Muñoz E, Hernández-Zarco A, Polanco-Ortiz A, Villa-Morales J, Mateos-Sánchez L. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review. J Pediatr Urol. February 2013; 9(1):12-18.
- White SM, Chamberlain R, Hitchcock R, Sullivan PB, Boyd PA. Megacystis-microcolon-intestinal hypoperistalsis syndrome: The difficulties with antenatal diagnosis. Case report and review of the literature. Prenat Diagn. 2000;
- Kohler M, Pease PWB, Upadhyay. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: Case report and review of the literature. Eur J Pediatr Surg. 2004;
- Puri P, Shinkai M. Megacystis microcolon intestinal hypoperistalsis syndrome. Seminars in Pediatric Surgery. 2005;
- What are the different ways in which a genetic condition can be inherited?. Genetics Home Reference Web site. September 23, 2013; http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns. Accessed 9/24/2013.