Rare Diseases Symptoms Automatic Extraction

Dystrophic epidermolysis bullosa associated with amniotic band syndrome.

[dystrophic epidermolysis bullosa]

Amniotic band syndrome (ABS) is a term used to describe congenital anomalies that result from the entrapment of a fetus in fibrous bands. We describe two male infants born with features of dystrophic epidermolysis bullosa (DEB) and ABS. These cases add to the few previous reports of simultaneous DEB and ABS. Abnormal type VII collagen in anchoring structures of the amniotic epithelium is a proposed mechanism for loose amniotic bands that entangle the fetus, with an abnormality in the gene that encodes for type VII collagen.

Diseases presenting "congenital anomalies" symptom

  • achondroplasia
  • classical phenylketonuria
  • congenital diaphragmatic hernia
  • dystrophic epidermolysis bullosa
  • holt-oram syndrome
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • oculocutaneous albinism
  • wolf-hirschhorn syndrome

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