Rare Diseases Symptoms Automatic Extraction

Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by a dilated, non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract, which is considered lethal. About 90 patients have been reported, predominantly female. We present the case of a female newborn with MMIHS in whom antenatal ultrasound was suggestive for the diagnosis, which was confirmed after delivery. Diagnostic features by antenatal ultrasound are described.

Diseases presenting "congenital disorder" symptom

  • 22q11.2 deletion syndrome
  • coats disease
  • congenital adrenal hyperplasia
  • cystinuria
  • dentinogenesis imperfecta
  • holt-oram syndrome
  • kabuki syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • oligodontia
  • pendred syndrome
  • proteus syndrome
  • wolf-hirschhorn syndrome

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