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Diseases

Genetic and Rare Diseases Information Center (GARD)

Megacystis microcolon intestinal hypoperistalsis syndrome


Other Names for this Disease
  • MMIH syndrome
  • Berdon syndrome
  • MMIHS
  • Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
Related Diseases
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

Newline Maker

What are the signs and symptoms of Megacystis microcolon intestinal hypoperistalsis syndrome?

Megacystis microcolon intestinal hypoperistalsis syndrome is primarily characterized by abdominal distention caused by an enlarged bladder and intestinal peudo-obstruction. Signs and symptoms are usually present from birth and are associated with a shortened lifespan (average 3.6 months).[1][2]
Last updated: 10/7/2015

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)
Abnormality of the upper urinary tract 90%
Duodenal stenosis 90%
Aplasia/Hypoplasia of the abdominal wall musculature 50%
Abdominal situs inversus 7.5%
Aganglionic megacolon 7.5%
Anonychia 7.5%
Anteverted nares 7.5%
Arachnodactyly 7.5%
Broad forehead 7.5%
Camptodactyly of finger 7.5%
Hyperparathyroidism 7.5%
Limitation of joint mobility 7.5%
Low-set, posteriorly rotated ears 7.5%
Microcephaly 7.5%
Narrow chest 7.5%
Prominent nasal bridge 7.5%
Round face 7.5%
Umbilical hernia 7.5%
Pancreatitis 5%
Autosomal dominant inheritance -
Constipation -
Diarrhea -
Dysphagia -
Fetal megacystis -
Hydronephrosis -
Malnutrition -
Megacystis -
Microcolon -
Polyhydramnios -
Vesicoureteral reflux -
Vomiting -

Last updated: 7/1/2016

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. Mc Laughlin D, Puri P. Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int. September 2013; 29(9):947-951.
  2. 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.


Other Names for this Disease
  • MMIH syndrome
  • Berdon syndrome
  • MMIHS
  • Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.