Ruvalcaba syndrome

Ruvalcaba syndrome (also known as Ruvalcaba-Myhre-Smith syndrome) is one of a group of disorders related to the congenital skeletal disturbance. It is characterized by:

  • macrocephaly
  • hypoplastic genitalia
  • intellectual (not invariably) and physical disability
  • short stature
  • peculiar facies
  • micrognathia with crowded teeth
  • narrow thoracic cage with pectus carinatum
  • subcutaneous lipoma
  • hamartomatous intestinal polyps
    • the stomach, small bowel & colon are involved in most cases

It must not be confused with Bannayan–Riley–Ruvalcaba syndrome, another hamartomatous polyposis syndrome.


It occurs in males and presents from birth. Inheritance is autosomal dominant.

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Article information

rID: 5210
Section: Syndromes
Synonyms or Alternate Spellings:
  • Ruvalcaba-Myhre-Smith syndrome
  • Ruvalcaba-Myhre syndrome

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