ORPHA:2549
Oculoauriculovertebral spectrum with radial defects
Also known as: Hemifacial microsomia-radial defects syndrome · Moeschler-Clarren syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
38
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
182
Distinct authors in sample
Gene link
MYT1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
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:0007712
- OMIM:141400
- UMLS:C0220681
Additional Mondo synonyms (1)
hemifacial microsomia-radial defects syndrome
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
Strong — MYT1
- LiteraturePresent
38 matched papers (13 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 (MYT1).
GenCC classification: Strong.
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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 38 · MeSH hits: 0
Who's working on it?
182
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.
- 01Hovius SE3 papers · 2013Papers in Europe PMC
- 02Selles RW3 papers · 2013Papers in Europe PMC
- 03Stam HJ3 papers · 2013Papers in Europe PMC
- 04Wall LB3 papers · 2022
Department of Orthopaedic Surgery, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri.
Papers in Europe PMC - 05de Kraker M2 papers · 2013
Rotterdam, The Netherlands From the Departments of Plastic and Reconstructive Surgery and Rehabilitation Medicine, Erasmus Medical Center.
Papers in Europe PMC - 06Goldfarb CA2 papers · 2022
Department of Orthopaedic Surgery, Washington University School of Medicine, Saint Louis, MO.
Papers in Europe PMC - 07Jackson M2 papers · 2024
Genetics and Genomics, The Roslin Institute R(D)SVS, CMVM, University of Edinburgh, Edinburgh EH25 9RG, UK.
Papers in Europe PMC - 08James MA2 papers · 2020
Department of Orthopaedic Surgery, Shriners Hospital Northern California, Sacramento 95817, USA.
Papers in Europe PMC - 09Kato H2 papers · 1990
Department of Orthopedic Surgery, Hokkaido University School of Medicine, Japan.
Papers in Europe PMC - 10Kavak RP2 papers · 2019
University of Health Sciences, Dışkapı Yıldırım Beyazıt Training and Research Hospital, Department of Radiology, Ziraat mah. Şehit Ömer Halisdemir cad. No:20, Altındağ, Ankara, Turkey.
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.
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.
See who's working on it — 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 on the overview but are not added to the query string.
"Oculoauriculovertebral spectrum with radial defects" OR "Hemifacial microsomia-radial defects syndrome" OR "Moeschler-Clarren syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Oculoauriculovertebral spectrum with radial defects" OR "Hemifacial microsomia-radial defects syndrome" OR "Moeschler-Clarren syndrome" OR "MYT1"
Recall-expansion terms: MYT1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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
Ingested 2026-07-26T20:28:51.650Z