FaCD Online Syndrome Fact Sheet

Last updated: 29 Aug 2008

Name: Ramon syndrome

Mode of Inheritance: AR

Tumor features

angiokeratoma
gingival fibroma
vulvar tumor

Non-tumor features

developmental delay/mental deficiency/mental retardation
growth deficieny
hypertrichosis
jaw, fibrous dysplasia of the
oculocutaneous telangiectasia
seizures
short stature
vulva, fibrous hyperplasia / hypertrophy of the

Non-tumor features (possible)

arthritis, juvenile rheumatoid
diabetes mellitus
hearing loss, conductive
hearing loss, neurosensory
retina, irregular pigmentation of

Comment

A small number of families with affected sibs have been reported. Main features are mental deficiency, epilepsy, fibrous dysplasia off the jaws (cherubism), gingival fibromatosis, hypertrichosis and growth deficiency. Some affected patients also had diabetes mellitus, telangiectasia, angiokeratomata of the soles, (conductive or sensorineural deafness), juvenile arthritis and irregular pigmentation of the irides.[1-3]. De Pina-Neto et al.[4] reported giant hypertrophy of the labia minora in one of their patients. Histological examination showed a fibromatosis similar to the gingival lesions.

References

[1] Ramon Y, Berman W, Bubis JJ. Gingival fibromatosis combined with cherubism. Oral Surg Oral Med Oral Pathol 1967; 24(4):435-448.
[2] Pridmore C, Baraitser M, Leonard J. Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs. Clin Dysmorph 1992; 1:29-35.
[3] De Pina-Neto JM, Moreno AFC, Silva LR, Velludo MASL, Petean EBL, Ribeiro MVM, Athayde-Junior L, Voltarelli JC. Cherubism,gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. Am J Med Genet 1986; 25:433-441.
[4] De Pina-Neto JM, de Souza NV, Velludo MASL, Perosa GBD, de Freitas MMS, Colafemina JF. Retinal changes and tumorigenesis in Ramon syndrome: Follow-up of a Brazilian family. Am J Med Genet 77[1], 43-46. 1998.