Rare Diseases Symptoms Automatic Extraction

Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with megaesophagus.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital disorder characterized by megacystis and hypoperistalsis of the gastrointestinal tract. About 80 cases have been reported, predominantly in females. We present a female newborn with typical features of the syndrome associated with megaesophagus.

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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