Gardner syndrome was first reported in 1951 by a college genetics teacher, comprising the clinical triad of osteomas, polyposis coli, and mesenchymal tumors of skin and soft tissue. It is inherited in an autosomal dominant manner.

It is known to occur in about one in 8,000 to one in 14,000 births, and is due to a mutation on the APC (adenomatous polyposis coli) gene on chromosome 5q21, thus being classified as part of the familial adenomatous polyposis syndromes. All parts of the world are equally affected and there is no gender difference. About 75% of patients have a family history of Gardner’s syndrome, but in a fourth of all cases the mutation arises de novo.

The symptoms of Gardner’s syndrome occur any time between the age of two months and 70 years, but especially at around 10-20 years.

Osteomas and Odontomas

The syndrome is often first seen in a dental clinic as it is associated with odontomas and impacted teeth at multiple sites, both permanent and supernumerary. In fact, about 30% of patients with Gardner’s syndrome have one or more dental anomaly. Maxillofacial involvement is very common, including skin cysts, pigmentation, and various radiographic anomalies. Odontomas also arise in the paranasal sinuses and mandible, and are rarely painful, generally occurring after puberty.

Multiple osteomas occur in this condition. The most common site is the mandible, while other locations include the skull, paranasal sinuses, and long bones. The most typical site is the angle of the jaw and the inferior surface of the mandible.

Osteomas occur early in the course of disease, before colonic polyps become symptomatic or are picked up by radiography, and before the condition is diagnosed. For this reason, the presence of osteomas should arouse curiosity as to the presence of Gardner’s syndrome as they offer a window of opportunity for early diagnosis and possible prevention of colonic cancer. A number of researchers suggest that radiography of the mandible may help to screen for carriers of this condition.

Osteomas and odontomas may cause the face to become asymmetric. They are seen as sharply-defined radio-opaque lesions. Fuzzy radio-opaque lesions are also sometimes observed within the jawbone.

Skin Lesions

The most frequently found skin manifestation of Gardner’s syndrome is the epidermoid cyst which occurs in 50-60% of patients. All parts of the body may be affected, but the face, limbs, and scalp are especially targeted. Desmoid tumors also occur over the abdominal wall as fibrous tumors with a benign course. These tumors are notorious for their high recurrence rate and occur in about 9% of patients. Retinal pigment epithelium hypertrophy present at birth is another possible finding.

Polyposis

The most common presentation of Gardner’s syndrome is nausea, vomiting, mucous, bloody diarrhea, and abdominal cramps or pain. Anemia is also present in many cases. Bowel obstruction is another presentation. These symptoms are due to adenomatous polyps of the colon of various types such as tubular, villous, and tubulovillous polyps which carpet the whole colon and rectum when seen on colonoscopy. Mostly smaller than 5 mm in size, they are difficult to detect by imaging. These growths may stud the mucosa of the stomach or small intestine in 12% of cases. Larger polyps may prolapse through the anus or may cause intussusception or obstruction. The most serious implication of this syndrome is the colonic carcinoma which occurs in about 2 of every 100 cases at presentation and in all patients by the age of 40, unless treated earlier.

Further Reading

• All Gardner Syndrome Content
• What is Gardner Syndrome?
• Gardner’s Syndrome Management

Written by

Dr. Liji Thomas

Dr. Liji Thomas is an OB-GYN, who graduated from the Government Medical College, University of Calicut, Kerala, in 2001. Liji practiced as a full-time consultant in obstetrics/gynecology in a private hospital for a few years following her graduation. She has counseled hundreds of patients facing issues from pregnancy-related problems and infertility, and has been in charge of over 2,000 deliveries, striving always to achieve a normal delivery rather than operative.