Synonym(s)
OMIM 2266270
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.
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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.
- Mehawej C et al (2018) Homozygous mutation in ELMO2 may cause Ramon syndrome. Clin Genet 93:703-706.
Recommended articles
Incoming links (1)
Fibromatosis gingivae;Outgoing links (1)
Fibromatosis gingivae;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer