Triphalangeal thumbs-brachyectrodactyly syndrome
Synonyms: Carnevale-Hernández-del Castillo-Torres syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Triphalangeal thumbs-brachyectrodactyly syndrome | Carnevale-Hernández-del Castillo-Torres syndrome |
| fr | Syndrome de pouce triphalangé-brachyectrodactylie | Syndrome de Carnevale-Hernández-del Castillo-Torres |
| de | Triphalangeale Daumen-Brachyektrodaktylie-Syndrom | Carnevale-Hernández-del Castillo-Torres-Syndrom |
| es | Síndrome del pulgar trifalángico-braquiectrodactilia | Síndrome de Carnevale-Hernández-del Castillo-Torres |
| it | Sindrome pollice trifalangeo-brachiectrodattilia | Sindrome di Carnevale-Hernandez-del Castillo · Sindrome di Carnevale-Hernandez-del Castillo-Torres · Sindrome di Carnevale-Hernández-del Castillo |
| nl | Trifalangeale duimen - brachyectrodactylie-syndroom | Syndroom van Carnevale-Hernández-del Castillo-Torres |
| pt | Síndrome de polegares trifalângicos-braquiectrodactilia | Síndrome Carnevale-Hernandez del Castillo-Torres |
| pl | Trójpaliczkowe kciuki - brachyektrodaktylia | Zespół Carnevale'a, Hernandeza i del Castillo · Zespół trójpaliczkowych kciuków i brachyektrodaktylii |
| cs | Syndrom zahrnující tříčlánkové palce na rukou a brachyektrodaktylii | Carnevaleové-Hernándezové-del Castillové syndrom · Carnevale-Hernández-del Castillové syndrom |
| uk | Синдром трифалангової брахіектродактилії великих пальців | Синдром Карневале-Ернандеса-дель-Кастілло-Торреса |
| zh | 三指节拇指-短指（趾）缺指（趾）综合征 | Carnevale-Hernández-del Castillo综合征 |
| tr | Trifalanjiyal başparmak-brakiektrodaktili sendrom | Carnevale-Hernández-del Castillo sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190680 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 0008607 | E | validated | |
| MeSH | C536564 | E | validated | |
| UMLS | C1860804 | E | validated | |
| GARD | 5290 | 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 (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 7438506[PMID]_3568429[PMID]_8946115[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7438506[PMID]_3568429[PMID]_8946115[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2947
- This record as JSON: /data/d/2947.json