Preferred Label : Ramon syndrome;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and
stunted growth;
Description : 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). *FIELD* RF 1. de Pina-Neto, J. M.; Moreno, A. F. C.;
Silva, L. R.; Velludo, M. A. S. L.; Patean, E. B. L.; Ribeiro, M. V. M.; Athayde-Junior,
L.; Voltarelli, J. C.: Cherubism, gingival fibromatosis, epilepsy, and mental deficiency
(Ramon syndrome) with juvenile rheumatoid arthritis. Am. J. Med. Genet. 25: 433-441,
1986. 2. de Pina-Neto, J. M.; Vieira de Souza, N.; Velludo, M. A. S. L.; Perosa, G.
B. D.; de Freitas, M. M. S.; Colafemina, J. F.: Retinal changes and tumorigenesis
in Ramon syndrome: follow-up of a Brazilian family. Am. J. Med. Genet. 77: 43-46,
1998. 3. Parkin, B.; Law, C.: Axenfeld anomaly and retinal changes in Ramon syndrome:
follow-up of two sibs. Am. J. Med. Genet. 104: 131-134, 2001. 4. Pridmore, C.; Baraitser,
M.; Leonard, J.: Ramon syndrome with diabetes mellitus and vascular skin lesions in
two sibs. Clin. Dysmorph. 1: 29-35, 1992. 5. Ramon, Y.; Berman, W.; Bubis, J. J.:
Gingival fibromatosis combined with cherubism. Oral Surg. 24: 436-448, 1967. *FIELD*
CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 266270;
Origin ID : 266270;
UMLS CUI : C0796133;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
