Gardner syndrome, also known as Werner-Gardner syndrome, familial multiple intestinal tumor-bone tumor-soft tissue tumor syndrome, and familial intestinal tumor syndrome, is an autosomal dominant genetic disorder characterized by the multifaceted expression of a single gene. In 1905, Gardner reported cases of intestinal tumors with a higher incidence of familial bone tumors, soft tissue tumors, and intestinal cancer. Later, in 1958, Smith identified the triad of intestinal tumors, soft tissue tumors, and bone tumors as Gardner syndrome. The pathogenesis of this syndrome remains unclear. The intestinal tumors are all adenomatous polyps, with a cancer transformation rate of up to 50%, while the bone tumors are all benign. Both males and females can be affected, and there is often a family history.

bubble_chart Clinical Manifestations

1. Multiple colonic polyps; main symptoms include diarrhea, mucous stool or bloody stool, with a high concurrent rate of polyps in other parts of the digestive tract such as the stomach and duodenum.

2. Soft tissue tumors: commonly occur on the face, trunk, or limbs, mostly sebaceous cysts, fibromas, epidermal cysts, lipomas, etc.

3. Bone tumor: commonly occurs in flat bones such as the jawbone, palate, and sphenoid bone, and can also be seen with dental developmental abnormalities, such as supernumerary teeth, odontomas, and impacted teeth.

bubble_chart Diagnosis

Endoscopy and X-ray examinations can confirm the presence of digestive tract polyps and bone tumors. The triad of intestinal tumor, soft tissue tumor, and bone tumor is sufficient for diagnosis.

bubble_chart Treatment Measures

The treatment approach is determined based on the distribution of intestinal tumors. Options include endoscopic polyp removal, partial colectomy, or total colectomy. Bone tumors and soft tissue tumors can also be surgically removed.