Riley-Smith Syndrome (Bannayan-Riley-Ruvalcaba Syndrome) 343c21d 343c21d 343c21d
General: Etiology unknown; possibly heterozygous condition (single autosomal gene); macrocephaly-pseudopapilledema-multiple hemangiomas; noted at birth; has been proposed that there is overlap with the Bannayan-Zonana syndrome and the Ruvalcaba-Myhre syndrome; autosomal dominant inherited condition.
Ocular: Pseudopapilledema; prominent Schwalbe line; visible corneal nerves; ocular hypertelorism; strabismus; amblyopia.
Clinical: Macrocephaly; subcutaneous hemangiomas; pulmonary infections; mild-to-severe mental retardation; skin hemangiomas; hypotonus; gastrointestinal polyps; pigmented maculae on the skin.
Gorlin RJ, et al. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 1992; 44:307-314.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
Riley HD, Smith WR. Macrocephaly, pseudopapilledema and multiple hemangiomata. Pediatrics 1960; 26:293-300.
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