Gardner syndrome

General: Autosomal dominant; both sexes a 151d32b ffected; average onset age 20 years.

Ocular: Exophthalmos; congenital hypertrophy of RPE; multiple lesions of the eye; bilateral occurrence; orbital osteoma; highly pleomorphic pigmentation; unilateral or bilateral retinal lesions; pilomatrixoma-like epidermal cysts; presence of pigmented fundus lesions appears to cluster within families.

Clinical: Intestinal polyps; dermoid tumors; neurofibrous osteomatosis; colon cancer; supernumerary teeth.

Blair NP, Trempe CL. Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. Am J Ophthalmol 1980; 90:661-667.

Cooper PH. Pilomatrixoma-like changes in the epidermal cyst of Gardner's syndrome. J Am Acad Dermatol 1983; 8:639.

Gardner EJ, Richards RC. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 1953; 5: 139.

Heinemann MH, et al. Familial polyposis coli: the spectrum of ocular and other extracolonic manifestations. Graefes Arch Clin Exp Ophthalmol 1991; 229:213-218.

Lewis RA, et al. The Gardner syndrome. Ophthalmology 1984; 91:916-925.

Whitson WE, et al. Orbital osteoma in Gardner's syndrome. Am J Ophthalmol 1986; 101:236-241.