ORPHA:3377
Trismus-pseudocamptodactyly syndrome
Also known as: Distal arthrogryposis type 7 · Dutch-Kentucky syndrome · Hecht syndrome · Hecht-Beals syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
148
60.6th percentile
Trials
0
Interventional, condition-specific
Researchers
803
Distinct authors in sample
Gene link
MYH8
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008016
- MeSH:C535857
- OMIM:158300
- UMLS:C0265226
Additional Mondo synonyms (2)
distal arthrogryposis type 7 · trismus-pseudocamptodactyly syndrome
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — MYH8
- LiteraturePresent
148 matched papers (72 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?
Yes — we know a specific gene responsible (MYH8).
GenCC classification: Strong.
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?
148
148 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.
148 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).
72 in the last 10 years · high confidence · 60.6th percentile (publications denominator)
Phrase hits: 148 · MeSH hits: 0
Who's working on it?
803
Distinct author names in 148 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.
- 01Soto ME9 papers · 2026
Immunology Department, Instituto Nacional de Cardiología Ignacio Chávez, and Research Department, Cardiovascular Line, American British Cowdray Hospital Center, Mexico City, Mexico.
Papers in Europe PMC - 02Pérez-Torres I8 papers · 2026
Cardiovascular Biomedicine Department, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
Papers in Europe PMC - 03Manzano-Pech L6 papers · 2026
Department of Cardiovascular Biomedicine, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano 1, Sección XVI, Tlalpan, 14080, Mexico City, Mexico.
Papers in Europe PMC - 04Guarner-Lans V4 papers · 2025
Department of Physiology, Instituto Nacional de Cardiología Ignacio Chávez, Juan Badiano 1, Sección XVI, Tlalpan, 14080, Mexico City, Mexico.
Papers in Europe PMC - 05Gamboa R3 papers · 2026
Department of Physiology, Instituto Nacional de Cardiología "Ignacio Chávez", México City, México.
Papers in Europe PMC - 06Huesca-Gómez C3 papers · 2026
Department of Physiology, Instituto Nacional de Cardiología "Ignacio Chávez", México City, México.
Papers in Europe PMC - 07Koretzky SG3 papers · 2023
Publication Department, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.
Papers in Europe PMC - 08Leinwand LA3 papers · 2024
Department of Molecular, Cellular and Developmental Biology and BioFrontiers Institute, University of Colorado, Boulder, CO USA.
Papers in Europe PMC - 09Li X3 papers · 2020
Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA, 90095, USA. xinminli@mednet.ucla.edu.
Papers in Europe PMC - 10Meza-Toledo SE3 papers · 2026
Department of Biochemistry, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional (IPN), México City, México.
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.
high 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.
"Trismus-pseudocamptodactyly syndrome" OR "Distal arthrogryposis type 7" OR "Dutch-Kentucky syndrome" OR "Hecht syndrome" OR "Hecht-Beals syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Trismus-pseudocamptodactyly syndrome" OR "Distal arthrogryposis type 7" OR "Dutch-Kentucky syndrome" OR "Hecht syndrome" OR "Hecht-Beals syndrome" OR "MYH8"
Recall-expansion terms: MYH8
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-26T23:01:54.447Z