ORPHA:2854
Fuhrmann syndrome
Also known as: Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome · Fuhrmann-Rieger-de Sousa syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
59
41.2th percentile
Trials
0
Interventional, condition-specific
Researchers
405
Distinct authors in sample
Gene link
WNT7A
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009232
- MeSH:C538189
- OMIM:228930
- UMLS:C1856728
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.”
2/6 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.
- Gene identifiedPresent
Definitive — WNT7A
- LiteraturePresent
59 matched papers (26 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 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)
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?
59
59 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
59 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).
26 in the last 10 years · medium confidence · 41.2th percentile (publications denominator)
Phrase hits: 59 · MeSH hits: 0
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.
- 01Al-Qattan MM4 papers · 2021
Division of Plastic and Hand Surgery, Department of Surgery at King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 02Mundlos S4 papers · 2023
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 03Cormier-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 - 04Wang 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 - 05Al Balwi M2 papers · 2013Papers in Europe PMC
- 06Bond 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 - 07Cox J2 papers · 2006
Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, Cambridge, United Kingdom.
Papers in Europe PMC - 08Girisha KM2 papers · 2023
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Papers in Europe PMC - 09Hall C2 papers · 2023
Emerita Consultant Paediatric Radiologist at Great Ormond Street Childrens' Hospital, London, UK.
Papers in Europe PMC - 10He 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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.
"Fuhrmann syndrome" OR "Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome" OR "Fuhrmann-Rieger-de Sousa syndrome"
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" OR "WNT7A"
Recall-expansion terms: WNT7A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T21:27:04.990Z