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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.
Features include always present findings: Equinus calcaneus; and very common findings: Rocker bottom foot, Abnormality of the foot musculature, Achilles tendon contracture, and Pes valgus and others. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 4 | Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation |
HOXD10 encodes homeobox D10 (340 aa). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis Highest expression in Uterus (103.7 TPM) and Cervix Ectocervix (52.6 TPM).
Congenital vertical talus is associated with mutations in the HOXD10 gene on chromosome 2.
HOXD10 is classified as a druggable target (Transcription Factor category) with score 26.1.
Genetic testing for HOXD10 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for congenital vertical talus has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 5 very common features, 4 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for congenital vertical talus.
69 publications have been identified in PubMed for congenital vertical talus. Research spans Clinical Trial Publication (28%), Basic Science / Preclinical (26%), and Review / Meta-Analysis (17%).
Research Type | Count | % of Total |
|---|---|---|
Clinical study results | 19 | 28% |
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 3:14 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Bones and joints |
2 |
Joint inflammation (arthritis), Lower extremity joint dislocation |
Muscles | 2 | Achilles tendon contracture, Distal arthrogryposis |
Brain and nerves | 1 | Nervous system problems (abnormality of the nervous system) |
18 |
26% |
Research summaries | 12 | 17% |
Patient case studies | 7 | 10% |
Disease patterns and progression | 6 | 9% |
Testing and diagnosis research | 4 | 6% |
New treatment approaches | 2 | 3% |
Other research | 1 | 1% |
Mascio A (2026). [PMID: 41901013](https://pubmed.ncbi.nlm.nih.gov/41901013/). *Life (Basel)*. [Review / Meta-Analysis]
Li M (2026). [PMID: 41817136](https://pubmed.ncbi.nlm.nih.gov/41817136/). *Foot & ankle international*. [Diagnostic / Biomarker]
Moss MH (2026). [PMID: 41492328](https://pubmed.ncbi.nlm.nih.gov/41492328/). *Cureus*. [Clinical Trial Publication]
Alawneh I (2026). [PMID: 41450731](https://pubmed.ncbi.nlm.nih.gov/41450731/). *Neurology. Genetics*. [Epidemiology / Natural History]
Pearse R (2026). [PMID: 41905211](https://pubmed.ncbi.nlm.nih.gov/41905211/). *Foot (Edinb)*. [Basic Science / Preclinical]
Yang H (2026). [PMID: 41490170](https://pubmed.ncbi.nlm.nih.gov/41490170/). *Science progress*. [Review / Meta-Analysis]
Yadav I (2026). [PMID: 42070985](https://pubmed.ncbi.nlm.nih.gov/42070985/). *J Pediatr Orthop B*. [Basic Science / Preclinical]
Agrawal U (2026). [PMID: 36251821](https://pubmed.ncbi.nlm.nih.gov/36251821/). *Unknown Journal*. [Other]
Marie H (2026). [PMID: 41598448](https://pubmed.ncbi.nlm.nih.gov/41598448/). *Journal of clinical medicine*. [Clinical Trial Publication]
Zhang Z (2026). [PMID: 41981429](https://pubmed.ncbi.nlm.nih.gov/41981429/). *Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi*. [Clinical Trial Publication]