Rare Diseases Symptoms Automatic Extraction

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Report of MMIHS in siblings with emphasis on diagnostic aspects in antenatal scanning and genetics.Two case reports and review of the literatureThe firstborn child of this family was a female infant with a postnatal diagnosis of MMIHS. In the consecutive pregnancy frequent antenatal scans were performed, which showed normal fetal anatomy until 19 weeks' gestation. The pregnancy was carried on and at 36 weeks' gestation dilatation of the renal collecting system and dilated loops of bowel were seen, suggestive of MMIHS.Prenatal diagnosis of MMIHS remains difficult. Further research into the genetics of this condition is necessary and would be an important tool in counselling parents with an affected child in view of the chances having an affected child at subsequent pregnancies. A multi-centre collection of a genetic pool from parents may be helpful for future research.

Diseases presenting "prenatal diagnosis" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • alpha-thalassemia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • canavan disease
  • classical phenylketonuria
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cystinuria
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • harlequin ichthyosis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • oculocutaneous albinism
  • omenn syndrome
  • phenylketonuria
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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