Ramon syndrome
Synonyms: Cherubism-gingival fibromatosis-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, genetic, primary bone dysplasia syndrome characterized by bilateral, painless swelling of the face extending from the mandible to the inferior orbital margins (cherubism), epilepsy, gingival fibromatosis (possibly obscuring teeth), and intellectual disability. Other associated variable features include hypertrichosis, stunted growth, juvenile rheumatoid arthritis, and development of ocular abnormalities (e.g. pigmentary retinopathy, optic disc pallor, Axenfeld anomaly). Radiological images typically show bilateral multifocal radiolucency involving the body, angle and ramus of the mandible and coronoid process.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ramon syndrome | Cherubism-gingival fibromatosis-intellectual disability syndrome |
| fr | Syndrome de Ramon | Syndrome de chérubinisme-fibromatose gingivale-déficience intellectuelle |
| de | Ramon-Syndrom | Cherubinismus mit gingivaler Fibromatose und Intelligenzminderung |
| es | Síndrome de Ramon | Síndrome de querubismo-fibromatosis gingival-discapacidad intelectual |
| it | Sindrome di Ramon | Sindrome cherubinismo-fibromatosi gengivale-disabilità intellettiva |
| nl | Syndroom van Ramon | Cherubisme - gingivale fibromatose - intellectuele achterstand-syndroom |
| pt | Síndrome Ramon | Síndrome de querubismo-fibromatose gengival-perturbação do desenvolvimento intelectual |
| pl | Zespół Ramona | Cherubizm - zwłóknienie dziąseł - niepełnosprawność intelektualna |
| cs | Ramonův syndrom | Syndrom zahrnující cherubismus, fibromatózu dásní a mentální retardaci |
| uk | Синдром Рамона | Синдром херувізму - фіброматозу ясен - інтелектуальної недостатності |
| zh | Ramon 综合征 | 巨颌症-牙龈纤维瘤病-智力障碍综合征 |
| tr | Ramon sendromu | Çerubizm-gingival fibromatozis-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266270 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009954 | E | validated | |
| MeSH | C535285 | E | validated | |
| UMLS | C0796133 | E | validated | |
| GARD | 7523 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELMO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17233 | ENSG00000062598 | 606421 | 20q13.12 | engulfment and cell motility 2 | 29095483[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 11746043[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11746043[PMID]_6829604[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0000293 | Full cheeks | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000189 | Narrow palate | |
| HP:0002797 | Osteolysis | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002230 | Generalized hirsutism | |
| Occasional (29-5%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0100585 | Telangiectasia of the skin | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3019
- This record as JSON: /data/d/3019.json