Congenital vertical talus
Synonyms: Congenital convex foot · Congenital convex pes valgus · Congenital rocker-bottom foot
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital vertical talus | Congenital convex foot · Congenital convex pes valgus · Congenital rocker-bottom foot |
| fr | Pied convexe congénital | Pied en piolet congénital |
| de | Vertikaler Talus, kongenitaler | Fuß, konvexer, kongenitaler · Schaukelfuß |
| es | Astrágalo vertical congénito | Pie convexo congénito · Pie en mecedora congénito · Pie valgo convexo congénito |
| it | Piede talo verticale congenito | Pes valgus convesso congenito · Piede congenito a "dondolo" · Piede convesso congenito |
| nl | Congenitale talus verticalis | Congenitale convexe pes valgus · Congenitale convexe voet · Congenitale rocker-bottom-voet |
| pt | Talo vertical congénito | Pes valgus convexo congénito · Pé convexo congénito |
| pl | Wrodzone pionowe ustawienie kości skokowej | Wrodzona stopa wypukła koślawa · Wrodzone stopy typu rocker-bottom · Wrodzone stopy wypukłe |
| cs | Vrozený strmý talus | Vrozená plochá noha · Vrozený plochý pes valgus · Vrozená kolébková noha |
| uk | Вроджена вертикальна таранна кістка | Вроджена опукла стопа · Вроджена опукла вальгусна стопа · Вроджена клишоногість стопи |
| zh | 先天性垂直距骨 | 先天性摇椅足 |
| tr | Doğumsal vertikal talus | Doğumsal konveks ayak · Doğumsal konveks pes valgus · Doğumsal rocker-bottom ayak |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 192950 | E | validated | |
| ICD-10 | Q66.8 | NTBT | inclusion | validated |
| ICD-11 | LB98.4 | E | specific | validated |
| MONDO | 0008652 | E | validated | |
| UMLS | C0240912 | E | validated | |
| GARD | 5488 | E | validated | |
| MedDRA | 10066242 | 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:294944Congenital deformities of limbs
rare developmental anomalies during embryogenesis; rare genetic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HOXD10 | ORPHA:295201Congenital vertical talus, unilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:5133 | ENSG00000128710 | 142984 | 2q31.1 | homeobox D10 | |
| HOXD10 | ORPHA:295203Congenital vertical talus, bilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:5133 | ENSG00000128710 | 142984 | 2q31.1 | homeobox D10 | 15146389[PMID]_16450407[PMID] |
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.
HPO phenotypes
13 annotations · validated 2021-12-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008138 | Equinus calcaneus | |
| Very frequent (99-80%) | ||
| HP:0001436 | Abnormality of the foot musculature | |
| HP:0001771 | Achilles tendon contracture | |
| HP:0030311 | Lower extremity joint dislocation | |
| HP:0008081 | Pes valgus | |
| HP:0001838 | Rocker bottom foot | |
| Frequent (79-30%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0005684 | Distal arthrogryposis | |
| HP:0025238 | Foot pain | |
| HP:0001763 | Pes planus | |
| Occasional (29-5%) | ||
| HP:0030840 | Ankle pain | |
| HP:0030268 | Hyperplastic callus formation | |
| HP:0002475 | Myelomeningocele | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 26337950[PMID]_19963176[PMID]_34752243[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178382
- This record as JSON: /data/d/178382.json