ORPHA:3332
Hypoplastic tibiae-postaxial polydactyly syndrome
Also known as: Hypoplastic tibia-polydactyly syndrome · Werner mesomelic syndrome
Is anyone studying this?
29
29 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
29 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
15 in the last 10 years · low confidence
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
161
Distinct author names in 29 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.
- 01Ahituv N5 papers · 2020
Department of Bioengineering and Therapeutic Sciences, University of California-San Francisco, San Francisco, CA, USA.
Papers in Europe PMC - 02Hill RE5 papers · 2017
MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Crewe Road, Edinburgh EH4 2XU, UK. bob.hill@igmm.ed.ac.uk
Papers in Europe PMC - 03Lettice LA5 papers · 2017
MRC-Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Rd, Edinburgh EH4 2XU, UK.
Papers in Europe PMC - 04VanderMeer JE4 papers · 2014
Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California 94143, USA.
Papers in Europe PMC - 05Williamson I3 papers · 2016
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Crewe Road, Edinburgh EH4 2XU, UK.
Papers in Europe PMC - 06Devenney PS2 papers · 2014Papers in Europe PMC
- 07Li Y2 papers · 2020
Research Center for Translational Medicine, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, P.R. China.
Papers in Europe PMC - 08Malik S2 papers · 2020
Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Papers in Europe PMC - 09Zhang Z2 papers · 2017
Department of Orthopedic Surgery, Shanghai Jiao-Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Papers in Europe PMC - 10Afzal M1 paper · 2012Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below but are not added to the query string.
"Hypoplastic tibiae-postaxial polydactyly syndrome" OR "Hypoplastic tibia-polydactyly syndrome" OR "Werner mesomelic syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypoplastic tibiae-postaxial polydactyly syndrome" OR "Hypoplastic tibia-polydactyly syndrome" OR "Werner mesomelic syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
0Query health: ok — strategies attempted: phrase; 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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low