Ramon Syndrome

Description

A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

Clinical Features

Top most frequent phenotypes and symptoms related to Ramon Syndrome

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Sensorineural hearing impairment
  • Kyphosis
  • Diabetes mellitus
  • Hyperkeratosis

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Ramon Syndrome Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome, cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Ramon Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Vascular malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

BMPR2, TEK, GLMN, CAV1, KRIT1, ELMO2, ACVRL1, EIF2AK4, CCM2, ENG, FOXF1, GATA2, GDF2, KCNK3, SMAD4, SMAD9, PDCD10, PTEN, RASA1
Specificity
6 %
Genes
100 %
Vascular malformations NGS panel.

By Connective Tissue Gene Tests (United States).

BMPR2, TEK, GLMN, CAV1, KRIT1, ELMO2, ACVRL1, EIF2AK4, CCM2, ENG, FOXF1, GATA2, GDF2, KCNK3, SMAD4, SMAD9, PDCD10, PTEN, RASA1
Specificity
6 %
Genes
100 %
Vascular malformations Comprehensive panel.

By Connective Tissue Gene Tests (United States).

BMPR2, TEK, GLMN, CAV1, KRIT1, ELMO2, ACVRL1, EIF2AK4, CCM2, ENG, FOXF1, GATA2, GDF2, KCNK3, SMAD4, SMAD9, PDCD10, PTEN, RASA1
Specificity
6 %
Genes
100 %
ELMO2.

By Fulgent Genetics Fulgent Genetics (United States).

ELMO2
Specificity
100 %
Genes
100 %
Vascular Malformations Panel.

By Blueprint Genetics (Finland).

SOX18, TEK, GLMN, KRIT1, STAMBP, ELMO2, ACVRL1, CCM2, ENG, SMAD4, PDCD10, PIK3CA, PTEN, RASA1
Specificity
8 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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