Gardner syndrome

An autosomal dominant inherited disorder associated with colon cancers.

• Triad of signs

1. Intestinal polyposis
2. Bony tumors eg osteoma
3. Soft-tissue lesions eg epidermoid cyst

• Displays an autosomal dominant inheritance pattern with complete penetrance and variable expressivity.
• Intestinal polyps become malignant in virtually 100% of patients if not treated.
• Polyps also develop in the upper gastrointestinal tract.
• Malignancies may occur in the brain and in the thyroid gland.
• The APC gene located at 5q21 is mutated.
• Extracolonic features precede intestinal polyposis.