Ramon Syndrome

Ramon et al. (1967) described 2 sibs with cherubism (maxillary fibrous dysplasia; see 118400), gingival fibromatosis (see 135300), epilepsy, mental deficiency, hypertrichosis, and stunted growth. De Pina-Neto et al. (1986) described the same disorder in 4 individuals in a Brazilian kindred. A male and 2 females were the offspring of a first-cousin marriage; the fourth case was a male related to them as a second cousin. The features were identical to those of the cases reported by Ramon et al. (1967) except that 3 of the 4 patients also had juvenile rheumatoid arthritis, which de Pina-Neto et al. (1986) suggested should be considered a part of the syndrome. De Pina-Neto et al. (1998) provided information on the clinical evolution of the disorder in the Brazilian family. Three members had developed pigmentary changes in the retina and paleness of the optic disc. Another had developed giant hypertrophy of the labia minora that, when examined histopathologically, was found to be due to neoplastic fibroblast and epithelial proliferation caused by a fibromatous process similar to that reported in the gingivae of patients with this disorder.

Parkin and Law (2001) reported follow-up of 2 sibs with Ramon syndrome, originally described by Pridmore et al. (1992). Both had anomalous pale optic discs and retinal abnormalities including pigmentary retinal changes in one sib. In addition, both sibs had bilateral anterior chamber eye anomalies (Axenfeld anomaly), not previously described in Ramon syndrome. The authors suggested that ocular abnormalities may be another feature of this syndrome.

Some of the features of Ramon syndrome are found in patients treated with phenytoin. Gingival hyperplasia also occurs in the Rutherfurd syndrome (180900), the Laband syndrome (135500), and the Jones syndrome (135550).