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Pediatric Gardner Syndrome Clinical Presentation

  • Author: Michael Gilger, MD; Chief Editor: Carmen Cuffari, MD  more...
Updated: Aug 06, 2015


Adequate screening is a necessity to avoid legal action. Patients must be screened properly to prevent development of cancer once the diagnosis of Gardner syndrome is made.


Physical Examination

Osteomas of the skull and the mandible are often present as painless bony overgrowths. These can often be detected before the colonic manifestations. Multiple osteomas may be a clue to the physician that Gardner syndrome is present.

Dental abnormalities include supernumerary teeth and odontomas and are typically diagnosed by physical examination of the mouth and teeth. However, they may only be detected on plain radiography.

Multiple epidermal cysts are often present and are another easily visible clue to the physician that colorectal disease may be present as well. They are commonly found on the face, scalp, and arms, but can occur anywhere on the skin surface. These cysts are benign but may pose a cosmetic concern for the patient.

Fibromatosis may present as an abdominal mass that is easily detected by palpation of the abdomen.

Congenital hypertrophy of the retinal pigmented epithelium is easily detectable by slit-lamp examination. It is a flat pigmented lesion on the retina. Oftentimes, they may be present bilaterally. These lesions do not cause clinical problems.

Thyroid carcinoma may present as a painful or painless mass in the thyroid, sometimes palpable on physical examination.

Contributor Information and Disclosures

Michael Gilger, MD Gastrointestinal Pathologist, Colorado GI Pathology, Centennial Pathologists

Michael Gilger, MD is a member of the following medical societies: American Society for Clinical Pathology, College of American Pathologists, United States and Canadian Academy of Pathology

Disclosure: Nothing to disclose.


Mark A Gilger, MD Professor of Pediatrics, Chief of Pediatric Gastroenterology, Hepatology and Nutrition, Director of Clinical Fellowship Training in Pediatric Gastroenterology, Hepatology and Nutrition, Baylor College of Medicine; Chief, Gastroenterology and Nutrition Service, Texas Children’s Hospital

Mark A Gilger, MD is a member of the following medical societies: American Academy of Pediatrics, American Society for Gastrointestinal Endoscopy, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Crohn's and Colitis Foundation of America

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching. for: Abbott Nutritional, Abbvie, speakers' bureau.

Additional Contributors

Jorge H Vargas, MD Professor of Pediatrics and Clinical Professor of Pediatric Gastroenterology, University of California, Los Angeles, David Geffen School of Medicine; Consulting Physician, Department of Pediatrics, University of California at Los Angeles Health System

Jorge H Vargas, MD is a member of the following medical societies: American Liver Foundation, Latin American Society of Pediatric Gastroenterology, Hepatology & Nutrition, American Society for Gastrointestinal Endoscopy, American Society for Parenteral and Enteral Nutrition, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition

Disclosure: Nothing to disclose.

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Colon, polyposis syndromes: polyposis coli. Postevacuation image obtained after double-contrast barium enema study shows extensive polyposis of the colon.
Endoscopic images showing multiple large intestinal polyps in a patient with Gardner syndrome. Courtesy of Christina Surawicz, MD, Harborview Medical Center, Seattle, Wash.
Surgical specimen of the colon in a patient with familial polyposis after total colectomy with ileoanal anastomosis. Note the carpetlike appearance of the mucosa covered with polyps.
High-power view of a tubular adenoma. Courtesy of G. Warren, MD, Rose Medical Center, Denver, Colo.
Villous adenoma showing fingerlike projections stretching from the surface of a polyp downward with minimal branching. Courtesy of D. Owen, MD.
Plain lateral skull radiograph in a patient with known Gardner syndrome shows a large osteoma in the occipital region (arrows).
Bland fibrocytic cells of a desmoid tumor growing in a haphazard-to-storiform manner and producing collagen (hematoxylin-eosin, original magnification X100).
Cyst containing keratinous material (hematoxylin and eosin, original magnification X1.6).
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