ORPHA:93322
Isolated tibial hemimelia
Also known as: Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula · Isolated congenital longitudinal deficiency of the tibia · Isolated tibial longitudinal meromelia
Publications
338
59.5th percentile
Trials
0
Interventional, condition-specific
Researchers
926
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010144
- MeSH:C535563
- OMIM:275220
- UMLS:C0265633
Additional Mondo synonyms (5)
congenital absence of tibia · congenital aplasia and dysplasia of the tibia with intact fibula · congenital longitudinal deficiency of the tibia · tibial hemimelia · tibial longitudinal meromelia
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
338 matched papers (119 in last 10 years) Source
- Phenotype characterisedPresent
35 HPO annotations (e.g. Split hand; Mesomelic leg shortening; Split foot) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
35
Associated phenotypes · MONDO:0010144
- Split hand
- Mesomelic leg shortening
- Split foot
- Aplasia of the 4th metacarpal
- Cutaneous finger syndactyly
Showing 5 of 35 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Amantadine · marker/mechanism
Literature
Is anyone studying this?
338
338 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=3967) is 59.
338 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
119 in the last 10 years · high confidence · 59.5th percentile (publications denominator)
Phrase hits: 335 · MeSH hits: 4
Who's working on it?
926
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.
- 01Shah H5 papers · 2016
Department of Orthopaedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
Papers in Europe PMC - 02Javid M4 papers · 2018
Orthopaedic Research Centre, Department of Orthopaedics, Namazee Hospital, Shiraz Medical University, Shiraz 7193711351, Iran.
Papers in Europe PMC - 03Shahcheraghi GH4 papers · 2018
Orthopaedic Research Centre, Department of Orthopaedics, Namazee Hospital, Shiraz Medical University, Shiraz 7193711351, Iran.
Papers in Europe PMC - 04Vogt B4 papers · 2025
Children's Orthopedics, Deformity Reconstruction and Foot Surgery, University Hospital of Muenster.
Papers in Europe PMC - 05Adam MP3 papers · 2021
Division of Genetic Medicine, Department of Pediatrics, University of Washington, 4800 Sand Point Way Northeast, OC.9.850, Seattle, WA 98105, USA. Electronic address: margaret.adam@seattlechildrens.org.
Papers in Europe PMC - 06Chhina H3 papers · 2025
Department of Experimental Medicine, Faculty of Medicine, University of British Columbia, Vancouver, Canada. Chhina.harpreet@gmail.com.
Papers in Europe PMC - 07Depaoli A3 papers · 2024
Pediatric Orthopedics and Traumatology, IRCSS-Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Papers in Europe PMC - 08Dobbs MB3 papers · 2017
Department of Orthopedic Surgery, Washington University, St. Louis, Missouri, USA Shriners Hospital for Children, St Louis, Missouri, USA.
Papers in Europe PMC - 09Freick M3 papers · 2025
Institute of Agricultural and Nutritional Sciences, Martin Luther University Halle-Wittenberg, 06120, Halle (Saale), Germany.
Papers in Europe PMC - 10Ganger R3 papers · 2016
Department of Pediatric Orthopaedics, Orthopaedic Hospital Speising, Speisinger Strasse 109, 1130, Vienna, Austria.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
Broader category hemimelia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: hemimelia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Isolated tibial hemimelia — check Associations / patient organisations on that page.
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.
"Isolated tibial hemimelia" OR "Isolated congenital absence of tibia" OR "Isolated congenital absence of the tibia" OR "Isolated congenital aplasia and dysplasia of the tibia with intact fibula" OR "Isolated congenital aplasia and dysplasia of tibia with intact fibula" OR "Isolated congenital longitudinal deficiency of the tibia" OR "Isolated congenital longitudinal deficiency of tibia" OR "Isolated tibial longitudinal meromelia" OR "congenital absence of tibia" OR "congenital absence of the tibia" OR "congenital aplasia and dysplasia of the tibia with intact fibula" OR "congenital aplasia and dysplasia of tibia with intact fibula" OR "congenital longitudinal deficiency of the tibia" OR "congenital longitudinal deficiency of tibia" OR "tibial hemimelia" OR "tibial longitudinal meromelia"
MeSH descriptor terms unioned into the query: Absence of Tibia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated tibial hemimelia" OR "Isolated congenital absence of tibia" OR "Isolated congenital absence of the tibia" OR "Isolated congenital aplasia and dysplasia of the tibia with intact fibula" OR "Isolated congenital aplasia and dysplasia of tibia with intact fibula" OR "Isolated congenital longitudinal deficiency of the tibia" OR "Isolated congenital longitudinal deficiency of tibia" OR "Isolated tibial longitudinal meromelia" OR "congenital absence of tibia" OR "congenital absence of the tibia" OR "congenital aplasia and dysplasia of the tibia with intact fibula" OR "congenital aplasia and dysplasia of tibia with intact fibula" OR "congenital longitudinal deficiency of the tibia" OR "congenital longitudinal deficiency of tibia" OR "tibial hemimelia" OR "tibial longitudinal meromelia" OR "Absence of Tibia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hemimelia"
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T04:15:28.961Z