Gardners syndrome

Gardner's syndrome

The Gardner's syndrome defect is an abnormality on chromosome 5q. It is inherited as an autosomal dominant trait, expressing multiple epidermoid cysts, polyposis of the colon, and osteomas.
The epidermoid cysts are usually present on the face, scalp and extremities, appearing in late childhood to early adulthood. Osteomas develop in the facial bones.

Treatment:

  • Close follow-up of the colon, i.e. polyps, is indicated, in view of the premalignant nature.
  • Prophylactic colectomy has been recommended by some.
  • Genetic counseling is warranted.

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