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ORPHA:166100

Autosomal dominant otospondylomegaepiphyseal dysplasia

low confidenceDisorder

Also known as: AD OSMED · Stickler syndrome type 3 · Stickler syndrome, non-ocular type

Publications

2,732

Trials

0

Interventional, condition-specific

Researchers

1,353

Distinct authors in sample

Gene link

COL11A2

Definitive

Readiness

4/6

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.

Orphanet entry

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — COL11A2

  2. LiteraturePresent

    2,732 matched papers (1,643 in last 10 years) Source

  3. Phenotype characterisedPresent

    25 HPO annotations (e.g. Pectus excavatum; Osteoarthritis; Abnormal metacarpal morphology) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

25

Associated phenotypes · MONDO:0008490

  • Pectus excavatum
  • Osteoarthritis
  • Abnormal metacarpal morphology
  • Glossoptosis
  • Cleft palate

Showing 5 of 25 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,732

2,732 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,732 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,643 in the last 10 years · low confidence

Phrase hits: 409 · MeSH hits: 1

Open Europe PMC search

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.

  1. 01
    Galil A4 papers · 2005

    Center for Child Development, Soroka University Hospital, Beer Sheva, Israel.

    Papers in Europe PMC
  2. 02
    Zhang Y4 papers · 2025

    Department of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, China.

    Papers in Europe PMC
  3. 03
    Allner 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
  4. 04
    Balk 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
  5. 05
    Chemke J3 papers · 2005

    Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.

    Papers in Europe PMC
  6. 06
    Gostian 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
  7. 07
    Hecht M3 papers · 2023

    Department of Radiation Oncology, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander-Universität (FAU), Erlangen-Nürnberg, Germany.

    Papers in Europe PMC
  8. 08
    Iro 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
  9. 09
    Keren B3 papers · 2026

    Department of Genetics, APHP Sorbonne University, Paris, France.

    Papers in Europe PMC
  10. 10
    Li 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Autosomal dominant otospondylomegaepiphyseal dysplasia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Pierre Robin syndrome with fetal chondrodysplasia" OR MESH:"Stickler syndrome, type 3") OR ("COL11A2" OR "COL11A2 syndrome" OR "COL11A2-related")

Run this search on Europe PMC

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"

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; 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