Ramon syndromeK10.-

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

OMIM 2266270

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DefinitionThis section has been translated automatically.

Rare hereditary disease combining cherubism with gingival fibromatosis and mental retardation. The name refers to the first author of the first description in 1967, physician Y. Ramon.

EtiopathogenesisThis section has been translated automatically.

A mutation in the ELMO2 gene can be detected.

ManifestationThis section has been translated automatically.

Incidence figures are not available. Heredity is autosomal recessive.

Clinical featuresThis section has been translated automatically.

Epilepsy, gingival fibromatosis, cherubism, wide and long open fontanel. Also: deep teeth, short stature, slight mental retardation, juvenile idiopathic arthritis.

TherapyThis section has been translated automatically.

Symptomatic

LiteratureThis section has been translated automatically.

  1. Mehawej C et al (2018) Homozygous mutation in ELMO2 may cause Ramon syndrome. Clin Genet 93:703-706.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer