ORPHA:1149
Kuskokwim syndrome
Also known as: Arthrogryposis-like syndrome · Kuskokwim disease
Publications
32
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
181
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A very rare contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An pattern of inheritance has been suggested.
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:0015241
- OMIM:208200
- UMLS:C1859709
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.”
1/6 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
32 matched papers (18 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
32
32 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=5449) is 41.
32 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).
18 in the last 10 years · medium confidence · 35.6th percentile (publications denominator)
Phrase hits: 32 · MeSH hits: 0
Who's working on it?
181
Distinct author names in 32 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.
- 01Marini JC9 papers · 2024
Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland, United States of America.
Papers in Europe PMC - 02Weis M5 papers · 2024
Orthopaedic Research Laboratories, University of Washington, Seattle, Washington, United States of America.
Papers in Europe PMC - 03Eyre DR4 papers · 2024
Orthopaedic Research Laboratories, University of Washington, Seattle, Washington, United States of America.
Papers in Europe PMC - 04Cabral WA3 papers · 2016
Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland, United States of America.
Papers in Europe PMC - 05Chen Y3 papers · 2017
the Department of Thoracic/Head and Neck Medical Oncology, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030.
Papers in Europe PMC - 06Krakow D3 papers · 2024
Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Papers in Europe PMC - 07Bächinger HP2 papers · 2017
From the Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239 and the Research Department, Shriners Hospital for Children, Portland, Oregon 97239 hpb@shcc.org.
Papers in Europe PMC - 08Barnes AM2 papers · 2020
National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: barnesai@mail.nih.gov.
Papers in Europe PMC - 09Blissett AR2 papers · 2014
Bone and Extracellular Matrix Branch, NICHD, NIH, Bethesda, Maryland, United States of America.
Papers in Europe PMC - 10Eyre D2 papers · 2017
Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, WA, USA.
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 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.
medium 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.
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.
"Kuskokwim syndrome" OR "Arthrogryposis-like syndrome" OR "Kuskokwim disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Kuskokwim syndrome" OR "Arthrogryposis-like syndrome" OR "Kuskokwim disease"
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T16:31:23.959Z