ORPHA:166011
Multiple epiphyseal dysplasia, Beighton type
Also known as: Multiple epiphyseal dysplasia-myopia-deafness syndrome · Multiple epiphyseal dysplasia-myopia-hearing loss syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Is anyone studying this?
9
9 papers have ever been indexed 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=183) is 38.
9 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
7 in the last 10 years · high confidence · 26.2th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
0
no matched trials for multiple epiphyseal dysplasia, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Possibly — only limited evidence so far for COL2A1.
GenCC classification: Limited.
Who's working on it?
65
Distinct author names in 9 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.
- 01Wu S2 papers · 2021
Department of Prenatal Diagnosis, Reproductive Medicine Center, The First Affiliated Hospital of Xinjiang Medical University.
Papers in Europe PMC - 02Yeter B2 papers · 2025
University of Health Sciences Türkiye, Ümraniye Training and Research Hospital,, Clinic of Pediatric Genetics, İstanbul, Türkiye
Papers in Europe PMC - 03Akgülle AH1 paper · 2025
Marmara University Faculty of Medicine, Department of Orthopaedics Surgery and Traumatology, İstanbul, Türkiye
Papers in Europe PMC - 04An W1 paper · 2025
Medical Department, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 05Bell PA1 paper · 2015
Newcastle University, Institute of Genetic Medicine, International Centre for Life , Newcastle-upon-Tyne, NE1 3BZ, UK.
Papers in Europe PMC - 06Briggs MD1 paper · 2015
Newcastle University, Institute of Genetic Medicine, International Centre for Life , Central Parkway, Newcastle-upon-Tyne, NE1 3BZ, UK.
Papers in Europe PMC - 07Busch-Nentwich EM1 paper · 2017
Wellcome Trust Sanger Institute, Hinxton, CB10 1SA, UK.
Papers in Europe PMC - 08Daane JM1 paper · 2017
Department of Orthopedic Research, Boston Children's Hospital, Massachusetts 02115.
Papers in Europe PMC - 09Deng H1 paper · 2015
Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 10Deng X1 paper · 2015
Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category multiple epiphyseal dysplasia also has no matched interventional trial. See who's working on it above — 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 below but are not added to the query string.
"Multiple epiphyseal dysplasia, Beighton type" OR "Multiple epiphyseal dysplasia-myopia-deafness syndrome" OR "Multiple epiphyseal dysplasia-myopia-hearing loss syndrome" OR "epiphyseal dysplasia, multiple, with myopia and deafness"
MeSH descriptor terms unioned into the query: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Multiple epiphyseal dysplasia, Beighton type" OR "Multiple epiphyseal dysplasia-myopia-deafness syndrome" OR "Multiple epiphyseal dysplasia-myopia-hearing loss syndrome" OR "epiphyseal dysplasia, multiple, with myopia and deafness" OR "Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness" OR "COL2A1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C565046 OMIM:132450 UMLS:C1851536
Query health: suspect — strategies attempted: phrase, mesh, 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