Rare Diseases Symptoms Automatic Extraction

The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

We report the cases of two sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases further support the view that this syndrome is inherited in an autosomal recessive fashion.

Diseases presenting "first cousins" symptom

  • cadasil
  • cowden syndrome
  • harlequin ichthyosis
  • junctional epidermolysis bullosa
  • kindler syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • oligodontia
  • triple a syndrome

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