Ruvalcaba syndrome

Last revised by Andrew Murphy on 18 Aug 2019

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.

See also

ADVERTISEMENT: Supporters see fewer/no ads