Rare Diseases Symptoms Automatic Extraction

[Cowden syndrome can be a challenging diagnosis.]

[cowden syndrome]

Cowden syndrome is a rare autosomal dominant overgrowth syndrome with a predisposition to cancer. The overgrowth and cancer may occur in many different tissues, which makes it a challenge to recognize it, but due to the high risk of cancer early diagnosis is important. We present the Danish screening guidelines for patients with Cowden syndrome.

Diseases presenting "overgrowth" symptom

  • achondroplasia
  • cowden syndrome
  • dentin dysplasia
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • lymphangioleiomyomatosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • proteus syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated