Ramon syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CHERUBISM, GINGIVAL FIBROMATOSIS, EPILEPSY, MENTAL DEFICIENCY, HYPERTRICHOSIS, AND STUNTED GROWTH Cherubism - gingival fibromatosis - intellectual deficit |
| Number of Symptoms | 37 |
| OrphanetNr: | 3019 |
| OMIM Id: |
266270
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| ICD-10: |
Q87.8 |
| UMLs: |
C0796133 |
| MeSH: |
C535285 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic malformation syndrome with odontal and/or periodontal component
-Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease Primary bone dysplasia with disorganized development of skeletal components -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000593) | Abnormality of the anterior chamber | Occasional [Orphanet] | 15 / 7739 | |||
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(HPO:0001492) | Axenfeld anomaly | 6 / 7739 | ||||
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(HPO:0000543) | Optic disc pallor | 67 / 7739 | ||||
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(HPO:0000510) | Rod-cone dystrophy | Frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000580) | Pigmentary retinopathy | 49 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0002808) | Kyphosis | 289 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0002797) | Osteolysis | Very frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0005681) | Juvenile rheumatoid arthritis | 2 / 7739 | ||||
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(HPO:0011362) | Abnormal hair quantity | Frequent [Orphanet] | 92 / 7739 | |||
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(HPO:0000998) | Hypertrichosis | 52 / 7739 | ||||
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(HPO:0008694) | Hypertrophic labia minora | 2 / 7739 | ||||
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(HPO:0000293) | Full cheeks | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000168) | Abnormality of the gingiva | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000169) | Gingival fibromatosis | 14 / 7739 | ||||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000189) | Narrow palate | 45 / 7739 | ||||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000682) | Abnormality of dental enamel | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0000684) | Delayed eruption of teeth | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Occasional [Orphanet] | 524 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Occasional [Orphanet] | 164 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Occasional [Orphanet] | 216 / 7739 | |||
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(HPO:0001014) | Angiokeratoma | 5 / 7739 | ||||
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(HPO:0001009) | Telangiectasia | 46 / 7739 | ||||
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(HPO:0100585) | Telangiectasia of the skin | Occasional [Orphanet] | 66 / 7739 | |||
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(HPO:0000819) | Diabetes mellitus | Occasional [Orphanet] | 131 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Cherubism (fibrous dysplasia of maxillae and mandible) | 1 / 7739 | ||||
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(OMIM) | Gingival biopsy shows hyperkeratosis, acanthosis, papillomatosis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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