ORPHA:3250
Proximal symphalangism
Synonyms: Symphalangism, Cushing type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal symphalangism | Symphalangism, Cushing type |
| fr | Symphalangie proximale | Symphalangie type Cushing |
| de | Symphalangismus, proximaler | Cushing-Symphalangie |
| es | Sinfalangismo proximal | Sinfalangismo familiar proximal · Sinfalangismo tipo Cushing |
| it | Sinfalangismo prossimale | Sinfalangismo familiare prossimale · Sinfalangismo, tipo Cushing |
| nl | Proximaal symfalangisme | Symfalangisme, Cushing-type |
| pt | Sinfalangia proximal | Sinfalangia, tipo Cushing |
| pl | Symfalangizm proksymalny | Symfalangizm, typu Cushinga |
| cs | Proximální symfalangismus | Symfalangismus, Cushingův typ |
| uk | Проксимальний симфалангізм | Симфалангізм, тип Кушинга |
| zh | 近端指关节粘连 | 指（趾）关节粘连，Cushing型 |
| tr | Proksimal simfalanjizm | Symphalangism, Cushing tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185800 | E | validated | |
| OMIM | 615298 | BTNT | validated | |
| ICD-10 | Q70.9 | NTBT | attributed | validated |
| ICD-11 | LB90.Y | NTBT | index | validated |
| MONDO | 0008511 | E | validated | |
| MeSH | C536223 | E | validated | |
| UMLS | C1861385 | E | validated | |
| GARD | 8182 | 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 (1):
- ORPHA:294949Non-syndromic joint formation defects
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GDF5 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4220 | ENSG00000125965 | 601146 | 20q11.22 | growth differentiation factor 5 | 18283415[PMID]_16892395[PMID] |
| NOG | Disease-causing germline mutation(s) in | Assessed | HGNC:7866 | ENSG00000183691 | 602991 | 17q22 | noggin | 11846737[PMID]_24326127[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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:0100490 | Camptodactyly of finger | |
| HP:0100264 | Proximal symphalangism | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0008368 | Tarsal synostosis | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0003070 | Elbow ankylosis | |
| HP:0003042 | Elbow dislocation | |
| HP:0040019 | Finger clinodactyly | |
| HP:0005880 | Metacarpophalangeal synostosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006101 | Finger syndactyly | |
| HP:0000486 | Strabismus | |
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/3250
- This record as JSON: /data/d/3250.json