Ramon syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Ramon syndrome is a rare genetic disorder characterized by a combination of cherubism with gingival overgrowth ( gingival fibromatosis ) and Intellectual Disabilities .

The name refers to the first author of the first description from 1967, the doctor Y. Ramon .

distribution

The frequency ( distribution ) is not known, the inheritance is autosomal - recessive .

clinic

Diagnostic criteria are:

In addition, there are deep-set teeth, short stature , slight intellectual disabilities, juvenile idiopathic arthritis

literature

  • S. Yalçin, F. Yalçin, M. Soydinç, S. Palandüz, O. Günhan: Gingival fibromatosis combined with cherubism and psychomotor retardation: a rare syndrome. In: Journal of periodontology. Volume 70, Number 2, February 1999, pp. 201-204, ISSN  0022-3492 . doi : 10.1902 / jop.1999.70.2.201 . PMID 10102559 .
  • J. Suhanya, C. Aggarwal, K. Mohideen, S. Jayachandran, I. Ponniah: Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report. In: Head and neck pathology. Volume 4, Number 2, June 2010, pp. 126-131, ISSN  1936-0568 . doi : 10.1007 / s12105-009-0155-9 . PMID 20512637 . PMC 2878617 (free full text).

Individual evidence

  1. ↑ a b Ramon syndrome. In: Orphanet (Rare Disease Database).
  2. ^ Y. Ramon, W. Berman, JJ Bubis: Gingival fibromatosis combined with cherubism. In: Oral surgery, oral medicine, and oral pathology. Vol. 24, No. 4, October 1967, pp. 435-448, ISSN  0030-4220 . PMID 5235465 .
  3. ^ B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9

Web links