ORPHA:178382
Congenital vertical talus
Also known as: Congenital convex foot · Congenital convex pes valgus · Congenital rocker-bottom foot
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
542
80.9th percentile
Trials
0
Interventional, condition-specific
Researchers
938
Distinct authors in sample
Gene link
HOXD10, TSHZ1
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Isolated 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.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008652
- MeSH:C536345
- OMIM:192950
- UMLS:C0240912
Additional Mondo synonyms (4)
Charcot-Marie-Tooth disease, foot deformity of · congenital convex foot · congenital convex pes valgus · congenital rocker-bottom foot
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — HOXD10, TSHZ1
- LiteraturePresent
542 matched papers (233 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Possibly — only limited evidence so far for HOXD10, TSHZ1.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
542
542 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
542 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
233 in the last 10 years · high confidence · 80.9th percentile (publications denominator)
Phrase hits: 542 · MeSH hits: 0
Who's working on it?
938
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Dobbs MB9 papers · 2022
Department of Orthopaedic Surgery, Washington University in St. Louis, St. Louis, Missouri, USA.
Papers in Europe PMC - 02Hosseinzadeh P9 papers · 2024
Department of Orthopaedic Surgery Washington University School of Medicine, St. Louis, MO.
Papers in Europe PMC - 03Cummings JL8 papers · 2024
Department of Orthopaedic Surgery, Washington University in St. Louis, Saint Louis, MO.
Papers in Europe PMC - 04Gurnett CA4 papers · 2022
Department of Neurology, Washington University in St. Louis, St Louis, Missouri, USA.
Papers in Europe PMC - 05Shah H4 papers · 2024
Department of Orthopaedics, Kasturba Hospital, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, 576104, India. hiteshshah12@gmail.com.
Papers in Europe PMC - 06Stredny CM4 papers · 2026
Program in Neuroimmunology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: coral.stredny@childrens.harvard.edu.
Papers in Europe PMC - 07Takahashi Y4 papers · 2025
National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders.
Papers in Europe PMC - 08Wang Y4 papers · 2024
Faculty of Sports Science, Ningbo University, Ningbo 315211, China.
Papers in Europe PMC - 09Conklin MJ3 papers · 2025
Department of Orthopedic Surgery, University of Alabama at Birmingham, Birmingham, AL, USA.
Papers in Europe PMC - 10Cross JH3 papers · 2021
Department of Clinical Neurosciences, UCL-Institute of Child Health, Great Ormond Street for Children NHS Foundation Trust, London and Young Epilepsy, Lingfield, United Kingdom.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Congenital vertical talus" OR "Congenital convex foot" OR "Congenital convex pes valgus" OR "Congenital rocker-bottom foot" OR "Charcot-Marie-Tooth disease, foot deformity of"
MeSH descriptor terms unioned into the query: [OBSOLETE] Vertical talus, congenital
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital vertical talus" OR "Congenital convex foot" OR "Congenital convex pes valgus" OR "Congenital rocker-bottom foot" OR "Charcot-Marie-Tooth disease, foot deformity of" OR "[OBSOLETE] Vertical talus, congenital" OR "HOXD10" OR "TSHZ1"
Recall-expansion terms: HOXD10, TSHZ1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T08:50:10.754Z