ORPHA:319340
Carney complex-trismus-pseudocamptodactyly syndrome
Also known as: Carney complex variant
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
23
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
130
Distinct authors in sample
Gene link
MYH8
Refuted
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).
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:0012137
- OMIM:608837
- UMLS:C1837245
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPartial
Refuted — MYH8
- LiteraturePresent
23 matched papers (13 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 trialPartial
None under the specific name; 1 for broader category Carney complex
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?
Uncertain — earlier gene claims are disputed or refuted.
GenCC classification: Refuted.
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?
23
23 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.
23 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 23 · MeSH hits: 0
Who's working on it?
130
Distinct author names in 23 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.
- 01Abu-Amero K1 paper · 2006Papers in Europe PMC
- 02al Awad A1 paper · 2006Papers in Europe PMC
- 03Alcalde JM1 paper · 2017
Department of Otorhinolaryngology, Clínica Universidad de Navarra, Pamplona, Spain.
Papers in Europe PMC - 04Alyami SA1 paper · 2021
Department of Mathematics and Statistics, Imam Mohammad Ibn Saud Islamic University, Saudi Arabia.
Papers in Europe PMC - 05Anselmi C1 paper · 2024
Blaise Veterinary Referral Hospital, IVC Evidensia Group, Birmingham, United Kingdom.
Papers in Europe PMC - 06Asanau A1 paper · 2014Papers in Europe PMC
- 07Aurino S1 paper · 2010Papers in Europe PMC
- 08Auwul MR1 paper · 2021
School of Economics and Statistics, Guangzhou University, Guangzhou 510006, China.
Papers in Europe PMC - 09Basson CT1 paper · 2004Papers in Europe PMC
- 10Bettoni J1 paper · 2020
Department of Oral and Maxillofacial Surgery, Amiens University Hospital, Amiens, France.
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). 1 trial are registered for Carney complex, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched Carney complex, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Carney complex
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Carney complex-trismus-pseudocamptodactyly syndrome" OR "Carney complex variant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Carney complex-trismus-pseudocamptodactyly syndrome" OR "Carney complex variant" OR "MYH8"
Recall-expansion terms: MYH8
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Carney complex"
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 2026-07-27T13:26:55.449Z