Ramon syndrome K10.-

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

OMIM 2266270

Definition
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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.

Etiopathogenesis
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A mutation in the ELMO2 gene can be detected.

Manifestation
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Incidence figures are not available. Heredity is autosomal recessive.

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

Therapy
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Symptomatic

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

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.

Authors

Last updated on: 29.10.2020