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ORPHA:2854

Fuhrmann syndrome

low confidenceDisorder

Also known as: Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome

Publications

5,141

Trials

0

Interventional, condition-specific

Researchers

405

Distinct authors in sample

Gene link

WNT7A

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare syndrome with limb reduction defects characterized by severe femoral bowing, aplasia/hypoplasia of the fibula and ulna. Patients may present with poly-, oligo-, clino- and syndactyly. Absence/coalescence of tarsal bones, absence of metatarsals, hypoplasia/aplasia of toes, fingers and fingernails, hypoplasia of pelvis, hip dislocation, short stature and amenorrhea have 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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

fibular hypoplasia or aplasia-femoral bowing-oligodactyly 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — WNT7A

  2. LiteraturePresent

    5,141 matched papers (3,362 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Aplasia/Hypoplasia of metatarsal bones; Hypoplastic pelvis; Postaxial hand polydactyly) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  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 (WNT7A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0009232

  • Aplasia/Hypoplasia of metatarsal bones
  • Hypoplastic pelvis
  • Postaxial hand polydactyly
  • Aplasia/Hypoplasia involving the metacarpal bones
  • Radial bowing

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

5,141

5,141 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.

5,141 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).

3,362 in the last 10 years · low confidence

Phrase hits: 59 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

405

Distinct author names in 59 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
    Al-Qattan MM4 papers · 2021

    Division of Plastic and Hand Surgery, Department of Surgery at King Saud University, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  2. 02
    Mundlos S4 papers · 2023

    Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.

    Papers in Europe PMC
  3. 03
    Cormier-Daire V3 papers · 2023

    Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.

    Papers in Europe PMC
  4. 04
    Wang Y3 papers · 2026

    Department of Pathology, University of Alabama at Birmingham, SHEL 815, 1825 University Blvd, Birmingham AL 35294-2182, USA.

    Papers in Europe PMC
  5. 05
    Al Balwi M2 papers · 2013
    Papers in Europe PMC
  6. 06
    Bond J2 papers · 2006

    Section of Ophthalmology and Neuroscience, Institute of Molecular Medicine, Epidemiology and Cancer Research, University of Leeds, Leeds, United Kingdom.

    Papers in Europe PMC
  7. 07
    Cox J2 papers · 2006

    Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, Cambridge, United Kingdom.

    Papers in Europe PMC
  8. 08
    Girisha KM2 papers · 2023

    Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.

    Papers in Europe PMC
  9. 09
    Hall C2 papers · 2023

    Emerita Consultant Paediatric Radiologist at Great Ormond Street Childrens' Hospital, London, UK.

    Papers in Europe PMC
  10. 10
    He X2 papers · 2014

    From the F. M. Kirby Neurobiology Center, Boston Children's Hospital, Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, xi.he@childrens.harvard.edu.

    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 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.

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 Fuhrmann 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.

("Fuhrmann syndrome" OR "Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome" OR "Fuhrmann-Rieger-de Sousa syndrome") OR ("WNT7A" OR "WNT7A syndrome" OR "WNT7A-related")

Run this search on Europe PMC

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

"Fuhrmann syndrome" OR "Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome" OR "Fuhrmann-Rieger-de Sousa syndrome"

Study-type breakdown: 0 interventional · 0 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5141) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T21:27:04.990Z