ORPHA:141132
Craniofacial microsomia
Also known as: OAVS · OAV spectrum · Oculoauriculovertebral spectrum · Oculo-auriculo-vertebral spectrum
Publications
1,161
92th percentile
Trials
4
Interventional, condition-specific
Researchers
981
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,161 matched papers (697 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 trialPresent
4 matched on ClinicalTrials.gov (1 recruiting in sample)
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
1,161
1,161 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=5449) is 41.
1,161 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).
697 in the last 10 years · medium confidence · 92th percentile (publications denominator)
Phrase hits: 1,161 · MeSH hits: 0
Who's working on it?
981
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Liu W20 papers · 2026
Department of Cranio-Maxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Papers in Europe PMC - 02Zhang Z20 papers · 2026
Maxillo-facial Surgery Center, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 33 Ba-Da-Chu Road, Beijing, China.
Papers in Europe PMC - 03Tang X14 papers · 2026
School of Engineering Medicine, Beihang University, Beijing 100191, China.
Papers in Europe PMC - 04Heike CL10 papers · 2026
Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA.
Papers in Europe PMC - 05Ma L9 papers · 2026
Maxillo-facial Surgery Center, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 33 Ba-Da-Chu Road, Beijing, China.
Papers in Europe PMC - 06Zhao S8 papers · 2026
Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100051, China.
Papers in Europe PMC - 07
- 08Li L7 papers · 2026
Department of Comprehensive Plastic Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100144, P. R. China.
Papers in Europe PMC - 09Li Z7 papers · 2026
Maxillo-facial Surgery Center, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 33 Ba-Da-Chu Road, Beijing, China.
Papers in Europe PMC - 10Stock NM7 papers · 2025
Centre for Appearance Research, University of the West of England, Bristol, UK.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
medium confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05610878·RECRUITING·Efficacy of Preconditioned Adipose-Derived Stem Cells in Fat Grafting
Conditions: Romberg Disease · Craniofacial Microsomia · Burn Scar · Post-Traumatic Scar (Disorder)·Matched via name phrase
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Craniofacial microsomia" OR "OAV spectrum" OR "Oculoauriculovertebral spectrum" OR "Oculo-auriculo-vertebral spectrum"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Craniofacial microsomia" OR "OAV spectrum" OR "Oculoauriculovertebral spectrum" OR "Oculo-auriculo-vertebral spectrum"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 4 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: OAVS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T07:53:49.634Z