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ORPHA:245

Nager syndrome

low confidenceDisorder

Also known as: Mandibulofacial dysostosis with preaxial limb anomalies · NAFD · Nager acrofacial dysostosis · Preaxial acrodysostosis

Publications

1,154

Trials

0

Interventional, condition-specific

Researchers

1,178

Distinct authors in sample

Gene link

SF3B4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Nager Syndrome · Nager acrofacial dysostosis syndrome · acrofacial dysostosis 1, Nager type · mandibulofacial dysostosis with preaxial limb anomalies · preaxial acrodysostosis

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 — SF3B4

  2. LiteraturePresent

    1,154 matched papers (804 in last 10 years) Source

  3. Phenotype characterisedPresent

    110 HPO annotations (e.g. Toe syndactyly; Hearing impairment; Limited elbow extension) 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 (SF3B4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

110

Associated phenotypes · MONDO:0007943

  • Toe syndactyly
  • Hearing impairment
  • Limited elbow extension
  • Unilateral renal agenesis
  • Absent lower eyelashes

Showing 5 of 110 — 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?

1,154

1,154 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.

1,154 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).

804 in the last 10 years · low confidence

Phrase hits: 438 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,178

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
    Griffin C8 papers · 2025

    Department of Molecular Pathobiology, New York University College of Dentistry, New York, New York, USA.

    Papers in Europe PMC
  2. 02
    Zhang Y8 papers · 2024

    Hepatobiliary and Pancreatic Surgery Department, The Cancer Hospital of the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital), Institute of Basic Medicine and Cancer(IBMC), Chinese Academy of Sciences, Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  3. 03
    Li H7 papers · 2026

    Hubei Key Laboratory of Cell Homeostasis, Hubei Provincial Research Center for Basic Biological Sciences, State Key Laboratory of Virology and Biosafety, College of Life Sciences, Wuhan University, Wuhan, China.

    Papers in Europe PMC
  4. 04
    Saint-Jeannet JP7 papers · 2025

    Department of Molecular Pathobiology, New York University College of Dentistry, New York, New York, USA.

    Papers in Europe PMC
  5. 05
    Tse WKF7 papers · 2026

    Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Faculty of Agriculture, Kyushu University, Fukuoka, Japan. Electronic address: kftse@agr.kyushu-u.ac.jp.

    Papers in Europe PMC
  6. 06
    Li Y6 papers · 2026

    Department of Obstetrics and Gynecology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012, China. sduliyingwei@126.com.

    Papers in Europe PMC
  7. 07
    Ulhaq ZS6 papers · 2026

    Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Faculty of Agriculture, Kyushu University, Fukuoka, Japan; Research Center for Pre-clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia, Cibinong, Indonesia. Electronic address: zulvikar.syambani.ulhaq@brin.go.id.

    Papers in Europe PMC
  8. 08
    Wang Y6 papers · 2025

    School of Basic Medical Sciences, Anhui Medical University, Hefei, China.

    Papers in Europe PMC
  9. 09
    Yang X6 papers · 2025

    Department of General Surgery, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu 221002, P.R. China.

    Papers in Europe PMC
  10. 10
    Yu H6 papers · 2026

    Guangdong Provincial Key Laboratory of Medical Molecular Diagnostics, The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 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. 1 observational study 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

1 observational study matches 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.

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 Nager syndrome — 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.

("Nager syndrome" OR "Mandibulofacial dysostosis with preaxial limb anomalies" OR "Nager acrofacial dysostosis" OR "Preaxial acrodysostosis" OR "Nager acrofacial dysostosis syndrome" OR "acrofacial dysostosis 1, Nager type") OR ("SF3B4" OR "SF3B4 syndrome" OR "SF3B4-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Nager syndrome" OR "Mandibulofacial dysostosis with preaxial limb anomalies" OR "Nager acrofacial dysostosis" OR "Preaxial acrodysostosis" OR "Nager acrofacial dysostosis syndrome" OR "acrofacial dysostosis 1, Nager type"

Study-type breakdown: 0 interventional · 1 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: NAFD

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:04:31.162Z