ORPHA:93329
Autosomal recessive omodysplasia
Also known as: Micromelic dysplasia-dislocation of radius syndrome
Publications
1,345
Trials
0
Interventional, condition-specific
Researchers
183
Distinct authors in sample
Gene link
GPC6
Strong
Readiness
3/6
Stages with a signal
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:0009779
- OMIM:258315
- UMLS:C1850318
Additional Mondo synonyms (4)
autosomal recessive omodysplasia · micromelic dysplasia-dislocation of radius syndrome · omodysplasia type 1 · omodysplasia, autosomal recessive
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — GPC6
- LiteraturePresent
1,345 matched papers (947 in last 10 years) Source
- Phenotype characterisedPresent
59 HPO annotations (e.g. Hypoplastic distal humeri; Depressed nasal bridge; Micromelia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (GPC6).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
59
Associated phenotypes · MONDO:0009779
- Hypoplastic distal humeri
- Depressed nasal bridge
- Micromelia
- Abnormal cardiovascular system morphology
- Hernia
Showing 5 of 59 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
1,345
1,345 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.
1,345 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).
947 in the last 10 years · low confidence
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
183
Distinct author names in 30 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.
- 01Bonafé L2 papers · 2009Papers in Europe PMC
- 02Chugh SS2 papers · 2010
The Heart Institute, 5702 South Tower, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA. sumeet.chugh@cshs.org
Papers in Europe PMC - 03Crespo A2 papers · 2018
Department of Biotechnology, Neiker-Tecnalia Arkaute, 01080, Vitoria-Gasteiz, Spain. ainaracsu@gmail.com.
Papers in Europe PMC - 04Fernández-Vega I2 papers · 2018
Servicio de Patología. Hospital Universitario de Araba, Álava, 01009, Spain. ivan_fernandez_vega@hotmail.com.
Papers in Europe PMC - 05Filmus J2 papers · 2022
Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada jorge.filmus@sri.utoronto.ca.
Papers in Europe PMC - 06García B2 papers · 2018
University Institute of Oncology of Asturias, Oviedo, Spain. garciabeatriz@uniovi.es.
Papers in Europe PMC - 07García-Suárez O2 papers · 2018
Department of Morphology and Cell Biology, University of Oviedo, 33006, Oviedo, Spain. garciaolivia@uniovi.es.
Papers in Europe PMC - 08Gustavson KH2 papers · 2009Papers in Europe PMC
- 09Liu C2 papers · 2026
Emergency Department, The Second Hospital of Tangshan, Tangshan, 063000, People's Republic of China.
Papers in Europe PMC - 10Mortier G2 papers · 2020
Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
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 omodysplasia 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: omodysplasia
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 recessive omodysplasia — check Associations / patient organisations on that page.
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 recessive omodysplasia" OR "Micromelic dysplasia-dislocation of radius syndrome" OR "Micromelic dysplasia-dislocation of the radius syndrome" OR "omodysplasia type 1" OR "omodysplasia, autosomal recessive") OR ("GPC6" OR "GPC6 syndrome" OR "GPC6-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive omodysplasia" OR "Micromelic dysplasia-dislocation of radius syndrome" OR "Micromelic dysplasia-dislocation of the radius syndrome" OR "omodysplasia type 1" OR "omodysplasia, autosomal recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"omodysplasia"
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
- Publication count (1345) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T04:16:14.881Z