ORPHA:1412
Tarsal-carpal coalition syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tarsal-carpal coalition syndrome | |
| fr | Syndrome de coalition tarso-carpienne | |
| de | Tarsal-Karpal-Fusions-Syndrom | |
| es | Síndrome con coalición tarso-carpal | |
| it | Sindrome con fusione carpotarsale | |
| nl | Tarsale-carpale coalitie-syndroom | |
| pt | Síndrome de fusão carpo-társica | Anomalias do tornozelo-baixa estatura · Sinostose do astrágalo e calcâneo-baixa estatura |
| pl | Zespół koalicji stępu i nadgarstka | |
| cs | Syndrom tarzální a karpální koalice | |
| uk | Синдром тарзально-пясткового зчленування | |
| zh | 跗骨-腕骨联体综合征 | |
| tr | Tarsal-karpal koalisyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186400 | BTNT | validated | |
| OMIM | 186570 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD26.3 | NTBT | index | validated |
| MONDO | 0008521 | E | validated | |
| MeSH | C536943 | E | validated | |
| UMLS | C1861305 | E | validated | |
| GARD | 9225 | 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:93459Syndrome with synostosis or other joint formation defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOG | Disease-causing germline mutation(s) in | Assessed | HGNC:7866 | ENSG00000183691 | 602991 | 17q22 | noggin | 11545688[PMID]_21538686[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003028 | Abnormality of the ankles | |
| HP:0004322 | Short stature | |
| HP:0008368 | Tarsal synostosis | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1412
- This record as JSON: /data/d/1412.json