Ruvalcaba syndrome

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

  • macrocephaly
  • hypoplastic genitalia
  • mental (not invariably) and physical retardation
  • 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.

Epidemiology

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

See also

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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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