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