ORPHA:166100
Autosomal dominant otospondylomegaepiphyseal dysplasia
Also known as: AD OSMED · Stickler syndrome type 3 · Stickler syndrome, non-ocular type
Publications
409
Trials
0
Interventional, condition-specific
Researchers
1,353
Distinct authors in sample
Gene link
COL11A2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, multiple anomalies/ syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal , arthralgia/arthropathy), in the absence of ocular abnormalities.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (22)
COL11A2 Stickler syndrome · OSMED, Heterozygous · OSMED, heterozygous · OSMEDA · Pierre Robin sequence-fetal chondrodysplasia syndrome · Pierre Robin syndrome with fetal chondrodysplasia · Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type · Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly · Pierre Robin syndrome with foetal chondrodysplasia · Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type · Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly · Pierre Robin syndrome-fetal chondrodysplasia syndrome · STICKLER syndrome, type III · STL3 · Stickler syndrome caused by mutation in COL11A2 · Stickler syndrome, type 3 · Stickler syndrome, type III, formerly · WZS · Weissenbacher-Zweymuller syndrome · heterozygous OSMED · heterozygous otospondylomegaepiphyseal dysplasia · otospondylomegaepiphyseal dysplasia, autosomal dominant
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
Definitive — COL11A2
- LiteraturePresent
409 matched papers (193 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 (COL11A2).
GenCC classification: Definitive.
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?
409
409 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.
409 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).
193 in the last 10 years · low confidence
Phrase hits: 409 · MeSH hits: 1
Who's working on it?
1,353
Distinct author names in 200 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.
- 01Galil A4 papers · 2005
Center for Child Development, Soroka University Hospital, Beer Sheva, Israel.
Papers in Europe PMC - 02Zhang Y4 papers · 2025
Department of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 03Allner M3 papers · 2023
Department of Otorhinolaryngology, Head & Neck Surgery, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander-Universität (FAU), 91054, Erlangen-Nürnberg, Germany. moritz.allner@uk-erlangen.de.
Papers in Europe PMC - 04Balk M3 papers · 2023
Department of Otorhinolaryngology, Head & Neck Surgery, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander-Universität (FAU), 91054, Erlangen-Nürnberg, Germany.
Papers in Europe PMC - 05Chemke J3 papers · 2005
Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.
Papers in Europe PMC - 06Gostian AO3 papers · 2023
Department of Otorhinolaryngology, Head & Neck Surgery, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander-Universität (FAU), 91054, Erlangen-Nürnberg, Germany.
Papers in Europe PMC - 07Hecht M3 papers · 2023
Department of Radiation Oncology, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander-Universität (FAU), Erlangen-Nürnberg, Germany.
Papers in Europe PMC - 08Iro H3 papers · 2023
Department of Otorhinolaryngology, Head & Neck Surgery, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander-Universität (FAU), 91054, Erlangen-Nürnberg, Germany.
Papers in Europe PMC - 09Keren B3 papers · 2026
Department of Genetics, APHP Sorbonne University, Paris, France.
Papers in Europe PMC - 10Li H3 papers · 2025
Department of Orthopedics, Heping Hospital Affiliated To Changzhi Medical College, Changzhi, Shanxi 046000, P.R. China. 2264805213@qq.com.
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.
low 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.
Broader category otospondylomegaepiphyseal dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: otospondylomegaepiphyseal dysplasia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. 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.
"Autosomal dominant otospondylomegaepiphyseal dysplasia" OR "AD OSMED" OR "Stickler syndrome type 3" OR "Stickler syndrome, non-ocular type" OR "COL11A2 Stickler syndrome" OR "OSMED, Heterozygous" OR "OSMEDA" OR "Pierre Robin sequence-fetal chondrodysplasia syndrome" OR "Pierre Robin syndrome with fetal chondrodysplasia" OR "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" OR "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" OR "Pierre Robin syndrome with foetal chondrodysplasia" OR "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type" OR "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" OR "Pierre Robin syndrome-fetal chondrodysplasia syndrome" OR "STICKLER syndrome, type III" OR "Stickler syndrome caused by mutation in COL11A2" OR "Stickler syndrome, type 3" OR "Stickler syndrome, type III, formerly" OR "Weissenbacher-Zweymuller syndrome" OR "heterozygous OSMED" OR "heterozygous otospondylomegaepiphyseal dysplasia" OR "otospondylomegaepiphyseal dysplasia, autosomal dominant"
MeSH descriptor terms unioned into the query: Pierre Robin syndrome with fetal chondrodysplasia; Stickler syndrome, type 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant otospondylomegaepiphyseal dysplasia" OR "AD OSMED" OR "Stickler syndrome type 3" OR "Stickler syndrome, non-ocular type" OR "COL11A2 Stickler syndrome" OR "OSMED, Heterozygous" OR "OSMEDA" OR "Pierre Robin sequence-fetal chondrodysplasia syndrome" OR "Pierre Robin syndrome with fetal chondrodysplasia" OR "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" OR "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" OR "Pierre Robin syndrome with foetal chondrodysplasia" OR "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type" OR "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" OR "Pierre Robin syndrome-fetal chondrodysplasia syndrome" OR "STICKLER syndrome, type III" OR "Stickler syndrome caused by mutation in COL11A2" OR "Stickler syndrome, type 3" OR "Stickler syndrome, type III, formerly" OR "Weissenbacher-Zweymuller syndrome" OR "heterozygous OSMED" OR "heterozygous otospondylomegaepiphyseal dysplasia" OR "otospondylomegaepiphyseal dysplasia, autosomal dominant" OR "COL11A2" OR "spondyloepiphyseal dysplasia"
Recall-expansion terms: COL11A2, spondyloepiphyseal dysplasia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"otospondylomegaepiphyseal dysplasia"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: STL3; WZS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- "Pierre Robin sequence-fetal chondrodysplasia syndrome" also appears on ORPHA:3450
- "Pierre Robin syndrome-fetal chondrodysplasia syndrome" also appears on ORPHA:3450
- "Weissenbacher-Zweymuller syndrome" also appears on ORPHA:3450
Ingested 2026-07-27T08:21:04.822Z