Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations

Am J Med Genet. 1983 Jul;15(3):491-5. doi: 10.1002/ajmg.1320150315.


We report on a 7 1/2-year-old boy with macrocephaly, hamartomatous intestinal polyps, and café-au-lait spots on the penis. These abnormalities were reported in two other individuals thought to have the Sotos syndrome. We think that this triad of abnormalities represents a new disorder, the Ruvalcaba-Myhre-Smith syndrome. Prominent Schwalbe lines, prominent corneal nerves, and lipid storage myopathy also appear to be part of the syndrome. Macrocephaly, similar facial appearance, and a hamartomatous polyp in the mother suggest dominant inheritance.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Hamartoma / complications*
  • Head / abnormalities*
  • Humans
  • Intestinal Polyps / complications*
  • Male
  • Pigmentation Disorders / complications*
  • Syndrome
  • Testis