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ORPHA:246

Postaxial acrofacial dysostosis

low confidenceDisorder

Also known as: Acrofacial dysostosis, Genee-Wiedemann type · Mandibulofacial dysostosis with postaxial limb anomalies · Miller syndrome · POADS · Postaxial acrodysostosis

Publications

5,042

Trials

0

Interventional, condition-specific

Researchers

1,347

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — DHODH

  2. LiteraturePresent

    5,042 matched papers (4,112 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Postnatal growth retardation; Cupped ear; Supernumerary nipple) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (DHODH).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

49

Associated phenotypes · MONDO:0009903

  • Postnatal growth retardation
  • Cupped ear
  • Supernumerary nipple
  • Radioulnar synostosis
  • Abnormality of the kidney

Showing 5 of 49 — 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?

5,042

5,042 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,042 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).

4,112 in the last 10 years · low confidence

Phrase hits: 629 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,347

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
    Wang Y12 papers · 2026

    Department of Immunology, Center for Immunotherapy, Institute of Basic Medical Sciences, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100005, China; National Key Laboratory of Immunity and Inflammation, Institute of Immunology, Naval Medical University, Shanghai 200433, China.

    Papers in Europe PMC
  2. 02
    Li Y11 papers · 2026

    Department of Vascular and Thyroid Surgery, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.

    Papers in Europe PMC
  3. 03
    Liu Y10 papers · 2026

    School of Life Sciences, Faculty of Medicine, Tianjin University, Tianjin 300354, China; Hangzhou Institute of Medicine, Chinese Academy of Science, Hangzhou 310018, China.

    Papers in Europe PMC
  4. 04
    Chen J8 papers · 2026

    Yunnan Branch of Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences & Peking Union Medical College, Xishuangbanna 666100, China.

    Papers in Europe PMC
  5. 05
    Li L7 papers · 2026

    School of Basic Medicine, Qingdao Medical College, Qingdao University, Qingdao 266071, China.

    Papers in Europe PMC
  6. 06
    Wang J7 papers · 2026

    Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100193, China.

    Papers in Europe PMC
  7. 07
    Zhang Y7 papers · 2026

    National Key Laboratory of Immunity and Inflammation, Institute of Immunology, Naval Medical University, Shanghai 200433, China.

    Papers in Europe PMC
  8. 08
    Xu Z6 papers · 2026

    School of Molecular Medicine, Hangzhou Institute for Advanced Study, UCAS, Hangzhou 310024, China.

    Papers in Europe PMC
  9. 09
    Chen X5 papers · 2026

    Key Laboratory of Biological Targeting Diagnosis, Therapy and Rehabilitation of Guangdong Higher Education Institutes, The Fifth Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China. chenxin@gzhmu.edu.cn.

    Papers in Europe PMC
  10. 10
    Chen Y5 papers · 2026

    Department of Nephrology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.

    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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

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 acrofacial dysostosis 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: 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

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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Postaxial acrofacial dysostosis — 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.

("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" OR "DHODH syndrome" OR "DHODH-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"acrofacial dysostosis"

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 (5042) 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