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ORPHA:251515

Distal arthrogryposis type 10

medium confidenceDisorder

Also known as: Short Achilles tendon · Short tendo calcaneus · DA10 · Plantar flexion contracture

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

144

52.5th percentile

Trials

1

Interventional, condition-specific

Researchers

704

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

distal arthrogryposis type 10 · plantar flexion contracture · short Achilles tendon · short tendo calcaneus

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    144 matched papers (71 in last 10 years) Source

  3. Phenotype characterisedPresent

    9 HPO annotations (e.g. Talipes; Distal arthrogryposis; Tip-toe gait) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

9

Associated phenotypes · MONDO:0016675

  • Talipes
  • Distal arthrogryposis
  • Tip-toe gait
  • Elbow flexion contracture
  • Camptodactyly of finger

Showing 5 of 9 — 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?

144

144 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.

144 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).

71 in the last 10 years · medium confidence · 52.5th percentile (publications denominator)

Phrase hits: 144 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

704

Distinct author names in 144 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Bamshad M2 papers · 2009

    Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle Children's Hospital, HSC RR349, Seattle, WA 98195, USA. mbamshad@u.washington.edu

    Papers in Europe PMC
  2. 02
    Brunton L2 papers · 2023

    Faculty of Health Sciences, School of Physical Therapy, Western University, London, ON, Canada.

    Papers in Europe PMC
  3. 03
    Cassidy C2 papers · 2023

    Schulich School of Medicine and Dentistry, Physical Medicine and Rehabilitation and Paediatrics, Western University, London, ON, Canada.

    Papers in Europe PMC
  4. 04
    Chen C2 papers · 2020

    Saw Swee Hock School of Public Health, National University of Singapore, National University Health System, #10-03-G, Tahir Foundation Building, Block MD1, 12 Science Drive 2, Singapore, 117549, Singapore. cynthiachen@u.nus.edu.

    Papers in Europe PMC
  5. 05
    Dahlin LB2 papers · 2016

    Department of Translational Medicine - Hand Surgery Skåne University Hospital Lund University Malmö Sweden.

    Papers in Europe PMC
  6. 06
    Fritz SL2 papers · 2014

    Department of Exercise Science, Physical Therapy Program, University of South Carolina, Columbia, South Carolina.

    Papers in Europe PMC
  7. 07
    Gaudreault N2 papers · 2009

    CRIR, Montreal Rehabilitation Institute site, Montreal, Quebec, Canada. nathalygaudreault@yahoo.ca

    Papers in Europe PMC
  8. 08
    Gravel D2 papers · 2009
    Papers in Europe PMC
  9. 09
    Gray K2 papers · 2019

    The Children's Hospital at Westmead Department of Endocrinology Cnr Hawkesbury Rd and Hainsworth St

    Papers in Europe PMC
  10. 10
    Ippolito E2 papers · 2021

    Department of Clinical Sciences and Traslational Medicine, Division of Orthopaedic Surgery, University of "Tor Vergata", Rome, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: distal arthrogryposis

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 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · 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).

Uncertain / not reviewed (14)

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 Distal arthrogryposis type 10 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Distal arthrogryposis type 10" OR "Short Achilles tendon" OR "Short tendo calcaneus" OR "Plantar flexion contracture"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Arthrogryposis, Distal, Type 10

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Distal arthrogryposis type 10" OR "Short Achilles tendon" OR "Short tendo calcaneus" OR "Plantar flexion contracture" OR "Arthrogryposis, Distal, Type 10"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"distal arthrogryposis"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DA10

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T10:46:36.039Z