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:
- 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.
- 1. Gretzula JC, Hevia O, Schachner LS et-al. Ruvalcaba-Myhre-Smith syndrome. Pediatr Dermatol. 1988;5 (1): 28-32. - Pubmed citation
- 2. Diliberti JH, Weleber RG, Budden S. Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations. Am. J. Med. Genet. 1983;15 (3): 491-5. doi:10.1002/ajmg.1320150315 - Pubmed citation
- 3. Sugio Y, Kajii T. Ruvalcaba syndrome: autosomal dominant inheritance. Am. J. Med. Genet. 1984;19 (4): 741-53. doi:10.1002/ajmg.1320190414 - Pubmed citation