ORPHA:246
Postaxial acrofacial dysostosis
Also known as: Acrofacial dysostosis, Genee-Wiedemann type · Mandibulofacial dysostosis with postaxial limb anomalies · Miller syndrome · POADS · Postaxial acrodysostosis
Publications
629
Trials
3
Interventional, condition-specific
Researchers
1,008
Distinct authors in sample
Gene link
DHODH
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.
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:0009903
- MeSH:C537680
- OMIM:263750
- UMLS:C0265257
Additional Mondo synonyms (3)
Miller Syndrome · postaxial acrodysostosis · postaxial acrofacial dysostosis
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — DHODH
- LiteraturePresent
629 matched papers (298 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
3 matched on ClinicalTrials.gov
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 (DHODH).
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?
629
629 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.
629 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).
298 in the last 10 years · low confidence
Phrase hits: 629 · MeSH hits: 0
Who's working on it?
1,008
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.
- 01Knecht W6 papers · 2025
Department of Biology & Lund Protein Production Platform & Protein Production Sweden, Lund University, Sölvegatan 35, Lund, 22362, Sweden.
Papers in Europe PMC - 02Krupinska E5 papers · 2025
Department of Biology & Lund Protein Production Platform & Protein Production Sweden, Lund University, Sölvegatan 35, Lund, 22362, Sweden.
Papers in Europe PMC - 03Trainor PA5 papers · 2020
Stowers Institute for Medical Research, Kansas City, MO, United States.
Papers in Europe PMC - 04Wang J5 papers · 2025
School of Communication Science and Disorders, Dalhousie University 5850 College St., Halifax B3H1X5, Canada.
Papers in Europe PMC - 05Chen X4 papers · 2024
Department of Otolaryngology, Peking Union Medical College Hospital Beijing, PR China.
Papers in Europe PMC - 06Dowgierd K4 papers · 2026
Head and Neck Surgery Clinic for Children and Young Adults, Department of Clinical Pediatrics, University of Warmia and Mazury, 10-561 Olsztyn, Poland.
Papers in Europe PMC - 07Kang D4 papers · 2017
Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Papers in Europe PMC - 08Orozco Rodriguez JM4 papers · 2024
Department of Biology & Lund Protein Production Platform, Lund University, Lund, Sweden.
Papers in Europe PMC - 09Uchiumi T4 papers · 2017
Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Papers in Europe PMC - 10Chen Y3 papers · 2026
Department of Radiology, Peking Union Medical College Hospital Beijing, PR China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
low confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: acrofacial dysostosis
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.
Observational and natural-history studies
3 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.
Recruiting or not-yet-recruiting
- NCT07366242·NOT YET RECRUITING·Prognostic Value of (DHODH) Expression in (HGSOC): A Comparative Study Between Neoadjuvant and Adjuvant Chemotherapy Settings
Conditions: HGSOC·Matched via name phrase
- NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of·Matched via name phrase
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.
"Postaxial acrofacial dysostosis" OR "Acrofacial dysostosis, Genee-Wiedemann type" OR "Mandibulofacial dysostosis with postaxial limb anomalies" OR "Miller syndrome" OR "POADS" OR "Postaxial acrodysostosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Postaxial acrofacial dysostosis" OR "Acrofacial dysostosis, Genee-Wiedemann type" OR "Mandibulofacial dysostosis with postaxial limb anomalies" OR "Miller syndrome" OR "POADS" OR "Postaxial acrodysostosis" OR "DHODH"
Recall-expansion terms: DHODH
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: 3 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"acrofacial dysostosis"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 (629) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T13:04:57.722Z