ORPHA:184
Cherubism
Synonyms: CRBM
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Childhood
- Status
- active
Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cherubism | CRBM |
| fr | Chérubisme | CRBM · Chérubinisme |
| de | Cherubismus | = en |
| es | Querubismo | = en |
| it | Cherubismo | = en |
| nl | Cherubisme | = en |
| pt | Querubismo | |
| pl | Cherubizm | = en |
| cs | Cherubismus | = en |
| uk | Херувізм | = en |
| zh | 家族性巨颌症 | = en |
| tr | Çerubizm | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118400 | E | validated | |
| ICD-10 | K10.8 | NTBT | inclusion | validated |
| ICD-11 | LD24.22 | E | specific | validated |
| MONDO | 0007315 | E | validated | |
| MeSH | D002636 | E | validated | |
| UMLS | C0008029 | E | validated | |
| GARD | 6036 | E | validated | |
| MedDRA | 10070535 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:290839Autoinflammatory syndrome with immune deficiency
rare genetic diseases; rare immunological diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases - ORPHA:324936Unclassified autoinflammatory syndrome
rare systemic and rheumatological diseases - ORPHA:324953Unclassified autoinflammatory syndrome of childhood
rare systemic or rheumatologic diseases of childhood
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SH3BP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10825 | ENSG00000087266 | 602104 | 4p16.3 | SH3 domain binding protein 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000277 | Abnormality of the mandible | |
| HP:0012062 | Bone cyst | |
| HP:0012802 | Broad jaw | |
| HP:0000293 | Full cheeks | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000677 | Oligodontia | |
| Occasional (29-5%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000648 | Optic atrophy | |
| HP:0000529 | Progressive visual loss | |
| HP:0000520 | Proptosis | |
| HP:0002781 | Upper airway obstruction | |
| HP:0000505 | Visual impairment | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/184
- This record as JSON: /data/d/184.json