The symptoms usually first become apparent in infancy but they may also appear later in life. Macrocephaly and delayed closure of the anterior fontanelles. Ocular symptoms include strabismus, downslanting palpebral fissures, amblyopia, prominent Schwalbe lines, and visible under the slit lamp. Pseudopapilledema occurs in some cases. Occasional accessory nipples and pectus excavatum.
Some cases exhibit scoliosis.
Hamartomatous polyps of the distal ileum and colon with intussusception and rectal bleeding. Diffuse polyposis and protein-losing enteropathy occur in some cases. Enlarged testes in adult patients and pigmented macules on the penis may be associated. Transmitted as an autosomal dominant trait. Hamartomas are usually subcutaneous and, less commonly, involve the bones and intracranial structures.