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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Megacystis microcolon intestinal hypoperistalsis syndrome


Other Names for this Disease

  • Berdon syndrome
  • MMIH syndrome
  • MMIHS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the symptoms of megacystis microcolon intestinal hypoperistalsis syndrome?

Babies with megacystis microcolon intestinal hypoperistalsis syndrome have a distended bladder and functional bowel obstruction (pseudo-obstruction).  Some may also have a shortened and malrotated colon and enlargement (dilatation) of the upper urinary tract.[1][2] Click here to learn more about pseudo-obstruction.
Last updated: 9/24/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Megacystis microcolon intestinal hypoperistalsis syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aplasia/Hypoplasia of the colon 90%
Gastrointestinal dysmotility 90%
Nausea and vomiting 90%
Intestinal malrotation 50%
Multicystic kidney dysplasia 50%
Polyhydramnios 50%
Cryptorchidism 7.5%
Malformation of the heart and great vessels 7.5%
Neoplasm of the heart 7.5%
Omphalocele 7.5%
Sepsis 7.5%
Umbilical hernia 7.5%
Abdominal distention -
Abdominal wall muscle weakness -
Autosomal recessive inheritance -
Fetal ascites -
Fetal megacystis -
Hydronephrosis -
Hydroureter -
Hypoperistalsis -
Intestinal malrotation -
Megacystis -
Microcolon -
Oligohydramnios -
Omphalocele -
Polyhydramnios -
Renal dysplasia -
Small for gestational age -
Umbilical hernia -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. 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;
  2. 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;


Other Names for this Disease
  • Berdon syndrome
  • MMIH syndrome
  • MMIHS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.