ORPHA:973
Isolated absence/hypoplasia of fingers excluding thumb, unilateral
Also known as: Isolated congenital adactyly of hand, unilateral · Isolated digits 2-5 hypodactyly, unilateral · Isolated digits 2-5 oligodactyly, unilateral
Publications
1
8th percentile
Trials
0
Interventional, condition-specific
Researchers
7
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007062
- MeSH:C562417
- OMIM:102650
- UMLS:C0220660
Additional Mondo synonyms (6)
Adactyly of hand, unilateral · adactylia unilateral · adactylia, unilateral · congenital absence/hypoplasia of fingers excluding thumb, unilateral · digits 2-5 hypodactyly, unilateral · digits 2-5 oligodactyly, unilateral
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
1 matched papers (1 in last 10 years) Source
- Phenotype characterisedPresent
8 HPO annotations (e.g. Abnormal nail morphology; Adactyly; Short thumb) 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)
8
Associated phenotypes · MONDO:0007062
- Abnormal nail morphology
- Adactyly
- Short thumb
- Duplication of the distal phalanx of the 5th finger
Showing 4 of 8 — 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)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1
1 paper have ever been indexed 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.
1 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).
1 in the last 10 years · high confidence · 8th percentile (publications denominator)
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
7
Distinct author names in 1 sampled paper — 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.
- 01Davis AP1 paper · 2021
Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695.
Papers in Europe PMC - 02Grondin CJ1 paper · 2021
Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695.
Papers in Europe PMC - 03Johnson RJ1 paper · 2021
Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695.
Papers in Europe PMC - 04Mattingly CJ1 paper · 2021
Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695.
Papers in Europe PMC - 05Sciaky D1 paper · 2021
Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695.
Papers in Europe PMC - 06Wiegers J1 paper · 2021
Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695.
Papers in Europe PMC - 07Wiegers TC1 paper · 2021
Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 21 · after dedupe 21 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 21 · dropped 0 · fetched 2026-07-29
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).
Uncertain / not reviewed (21)
- ctis·2024-519515-34-00·Authorised·L-Thyroxine for the treatment of acute unilateral vestibulopathy (AUVP): a monocentric, double-blind, placebo-controlled trial (T4U)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521163-12-01·Authorised·The use of [68Ga]Ga-FAPI PET/MRI in assessing disease activity in patients with Graves’ orbitopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-513710-35-00·Authorised·SERORL Effect of aspirin and folic acid for sudden sensorineural hearing loss
skipped — LLM skipped (--skip-llm)
- ctis·2024-519832-17-00·Cancelled·Perineural incobotulinumtoxin-A for Complex Regional Pain Syndrome - An open-label feasibility study (PINCom)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519688-16-00·Authorised, ongoing·A Multicenter, Randomized, Open-Label, Blinded Endpoint Evaluation, Active-Controlled Study to Compare the Efficacy and Safety of SRSD107 and Enoxaparin in Adult Subjects Undergoing Elective Primary Unilateral Total Knee Arthroplasty.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520204-26-00·Cancelled·Effects of 10 vs. 20 mL Local Anesthetic for Popliteal Plexus Block on Opioid Consumption, Pain, and Patient-Reported Outcomes after Total Knee Arthroplasty - a randomized, controlled, blinded study
skipped — LLM skipped (--skip-llm)
- ctis·2023-509341-12-00·Authorised, ongoing·AN OPEN LABEL, RANDOMISED, CONTROLLED CLINICAL TRIAL TO ASSESS THE SAFETY OF ENDOBRONCHIAL ADMINISTRATION OF ALLOGENEIC MESENCHYMAL STROMAL CELLS IN PATIENTS WITH LUNG TRANSPLANT CHRONIC REJECTION: Study ENDOSC-CLAD
skipped — LLM skipped (--skip-llm)
- ctis·2024-516970-31-00·Cancelled·Molecular imaging exploration of ocular angiogenic activity and evaluation of its value in therapeutic follow-up of AMD patients
skipped — LLM skipped (--skip-llm)
- ctis·2024-517275-21-00·Authorised, ongoing·"RETINO 2011" : Conservative treatment of patients with retinoblastoma
skipped — LLM skipped (--skip-llm)
- ctis·2024-513609-29-01·Cancelled·Prospective, randomized, blinded, comparative study between botulinum toxin and topical capsaicin in the treatment of postmastectomy syndrome. Pilot study
skipped — LLM skipped (--skip-llm)
- ctis·2024-514844-10-00·Expired·RB SFCE 2009 : Adjuvant treatment in extensive unilateral retinoblastoma primary enucleated
skipped — LLM skipped (--skip-llm)
- ctis·2024-512628-12-00·Authorised, ongoing·CXCR4-directed [68Ga]Ga-PentixaFor PET/CT vs AVS performance in a diagnoStic randomized Trial Ultimately comparing hypertenSion outcome in primary aldosteronism (CASTUS trial)
skipped — LLM skipped (--skip-llm)
- ctis·2023-507490-18-00·Authorised, ongoing·Enhanced recovery and Abbreviated Length of Anticoagulation for Thromboprophylaxis after primary Hip Arthroplasty – the ENABLE-Hip Trial
skipped — LLM skipped (--skip-llm)
- ctis·2022-500631-36-00·Authorised, ongoing·High Dose Steroids in Children with Stroke and Unilateral Focal Arteriopathy:
A Multicentre Randomized Controlled Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-511342-40-00·Authorised, ongoing·A Phase 1/2, Open-Label, Multicenter Trial with a Single Ascending Dose Cohort with Unilateral Intracochlear Injection Followed by a Bilateral Injection Expansion Cohort to Evaluate the Safety, Tolerability, and Efficacy of DB-OTO in Children and Infants with Biallelic hOTOF Mutations
skipped — LLM skipped (--skip-llm)
- ctis·2023-508602-14-00·Cancelled·A Phase 2, Multicenter, Randomized, Open-label, Active-Control Study of REGN7508, a Factor XI Monoclonal Antibody, for the Prevention of Venous Thromboembolism in Participants Undergoing an Elective, Unilateral, Total Knee Arthroplasty (ROXI-VTE II)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511687-90-00·Cancelled·Safety and Efficacy of a Unilateral Subretinal Administration of HORA PDE6B in Patients with Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression
skipped — LLM skipped (--skip-llm)
- ctis·2023-505507-22-00·Cancelled·PENTALON - Pilot study for the evaluation of [68Ga]Ga-PentixaFor PET imaging for the identification of unilateral adrenal secretion of ALdosterON in patients with primary aldosteronism.
skipped — LLM skipped (--skip-llm)
- ctis·2023-504466-28-00·Expired·A Phase I/II, open-ended, adaptative, open label dose escalation and expansion clinical trial to evaluate the efficacy and safety of unilateral intracochlear injection of SENS-501 using an injection system in children with severe to profound hearing loss due to Otoferlin gene mutations
skipped — LLM skipped (--skip-llm)
- ctis·2023-503340-13-00·Authorised, ongoing·A multicenter, double-blinded, randomized, placebo-controlled trial to compare the effectiveness of intratympanic injections methylPREDnisolone versus placebo in the treatment of vertigo attacks in MENière’s disease (PREDMEN trial).
skipped — LLM skipped (--skip-llm)
- ctis·2022-501470-18-00·Cancelled·A Phase 2, Multicenter, Randomized, Open-Label, Active-Control Study of REGN9933, a Factor XI Monoclonal Antibody, for Prevention of Venous Thromboembolism after Elective, Unilateral, Total Knee Arthroplasty
skipped — LLM skipped (--skip-llm)
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 absence/hypoplasia of fingers excluding thumb, unilateral — 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 absence/hypoplasia of fingers excluding thumb, unilateral" OR "Isolated absence/hypoplasia of the fingers excluding thumb, unilateral" OR "Isolated congenital adactyly of hand, unilateral" OR "Isolated congenital adactyly of the hand, unilateral" OR "Isolated digits 2-5 hypodactyly, unilateral" OR "Isolated digits 2-5 oligodactyly, unilateral" OR "Adactyly of hand, unilateral" OR "Adactyly of the hand, unilateral" OR "adactylia unilateral" OR "adactylia, unilateral" OR "congenital absence/hypoplasia of fingers excluding thumb, unilateral" OR "congenital absence/hypoplasia of the fingers excluding thumb, unilateral" OR "digits 2-5 hypodactyly, unilateral" OR "digits 2-5 oligodactyly, unilateral"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated absence/hypoplasia of fingers excluding thumb, unilateral" OR "Isolated absence/hypoplasia of the fingers excluding thumb, unilateral" OR "Isolated congenital adactyly of hand, unilateral" OR "Isolated congenital adactyly of the hand, unilateral" OR "Isolated digits 2-5 hypodactyly, unilateral" OR "Isolated digits 2-5 oligodactyly, unilateral" OR "Adactyly of hand, unilateral" OR "Adactyly of the hand, unilateral" OR "adactylia unilateral" OR "adactylia, unilateral" OR "congenital absence/hypoplasia of fingers excluding thumb, unilateral" OR "congenital absence/hypoplasia of the fingers excluding thumb, unilateral" OR "digits 2-5 hypodactyly, unilateral" OR "digits 2-5 oligodactyly, unilateral"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query 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
Ingested 2026-07-26T16:04:15.047Z