ORPHA:210576
Congenital temporomandibular joint ankylosis
Also known as: Congenital trismus
Publications
38
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
164
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. , , , and additional features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016220
- UMLS:C4706319
Additional Mondo synonyms (1)
congenital trismus
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
38 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 trialPartial
None under the specific name; 10 for broader category ankylosis
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?
38
38 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.
38 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 · high confidence · 35.6th percentile (publications denominator)
Phrase hits: 38 · MeSH hits: 0
Who's working on it?
164
Distinct author names in 38 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.
- 01Dowgierd K2 papers · 2026
Head and Neck Surgery Clinic for Children and Young Adults, Department of Clinical Pediatrics, Collegium Medicum, University of Warmia and Mazury, 10-561 Olsztyn, Poland;
Papers in Europe PMC - 02Graham GE2 papers · 2016
Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.
Papers in Europe PMC - 03Kulesa-Mrowiecka M2 papers · 2026
Department of Rehabilitation in Internal Diseases, Faculty of Health Sciences, Jagiellonian University Medical College, 31-126 Krakow, Poland;
Papers in Europe PMC - 04Lejawa M2 papers · 2026
Department of Pharmacology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-055 Katowice, Poland;
Papers in Europe PMC - 05Lipowicz A2 papers · 2026
Department of Anthropology, Faculty of Biology and Animal Science, Wroclaw University of Environmental and Life Sciences, 50-375 Wroclaw, Poland;
Papers in Europe PMC - 06Myśliwiec A2 papers · 2026
Laboratory of Physiotherapy and Physioprevention, Institute of Physiotherapy and Health Sciences, Academy of Physical Education in Katowice, 40-065 Katowice, Poland;
Papers in Europe PMC - 07Wolański W2 papers · 2026
Department of Biomechatronics, Faculty of Biomedical Engineering, Silesian University of Technology, 41-800 Zabrze, Poland;
Papers in Europe PMC - 08Adams C1 paper · 1999
Department of Plastic and Reconstructive Surgery, Middlemore Hospital, Otahuhu, Auckland, New Zealand.
Papers in Europe PMC - 09Almansa Ruiz JC1 paper · 2021
Department of Companion Animal Clinical Studies, Faculty of Veterinary Science, University of Pretoria, Old Soutpan Rd, Onderstepoort, Pretoria, 0110, South Africa.
Papers in Europe PMC - 10Amiel J1 paper · 2020
Centre de Référence des Fentes et Malformations Faciales 'MAFACE', Hôpital Necker-Enfants-Malades, Paris, 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). 10 trials are registered for ankylosis, 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.
10 interventional trials matched ankylosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: ankylosis
10
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.
Recruiting under the broader category
- NCT06631638·RECRUITING·EMPHASYS Cup Positioning in THA With Non-Invasive Navigation (Velys Hip Navigation (VHN))
Conditions: Osteoarthritis · Traumatic Arthritis · Rheumatoid Arthritis · Congential Hip Dysplasia·Matched via name phrase
- NCT02469662·RECRUITING·Clinical Outcomes Study of the Nexel Total Elbow
Conditions: Elbow Joint Destruction · Post-traumatic Lesions · Ankylosed Joints · Advanced Rheumatoid Arthritis·Matched via name phrase
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.
"Congenital temporomandibular joint ankylosis" OR "Congenital trismus"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital temporomandibular joint ankylosis" OR "Congenital trismus"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"ankylosis"
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 2026-07-27T09:32:07.038Z