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ORPHA:1987

Isolated femoral agenesis/hypoplasia

medium confidenceDisorder

Also known as: CFD · CSF · Isolated congenital femoral deficiency · Isolated congenital short femur · Isolated femoral intercalary meromelia

Publications

9,339

94.2th percentile

Trials

0

Interventional, condition-specific

Researchers

496

Distinct authors in sample

Gene link

FGF8

Moderate

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

short femur is a rare of variable severity ranging from mild hypoplasia to complete absence of the femur.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

congenital short femur · femoral intercalary meromelia

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.

  1. Gene identifiedPresent

    Moderate — FGF8

  2. LiteraturePresent

    9,339 matched papers (4,543 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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?

Probably — there is moderate evidence for FGF8.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

9,339

9,339 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.

9,339 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).

4,543 in the last 10 years · medium confidence · 94.2th percentile (publications denominator)

Phrase hits: 138 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

496

Distinct author names in 138 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
    Grill F4 papers · 2018

    Paediatric Orthopaedic Department, Speising Hospital, Vienna, Austria.

    Papers in Europe PMC
  2. 02
    Hill RA4 papers · 2009
    Papers in Europe PMC
  3. 03
    Baumgart M3 papers · 2024

    Department of Normal Anatomy, The Ludwik Rydygier Collegium Medicum in Bydgoszcz, The Nicolaus Copernicus University in Toruń, Łukasiewicza 1 Street, 85-821, Bydgoszcz, Poland.

    Papers in Europe PMC
  4. 04
    Dahl MT3 papers · 2025

    Department of Orthopaedic Surgery, Gillette Children's Hospital, Saint Paul, MN, USA.

    Papers in Europe PMC
  5. 05
    Dungl P3 papers · 2025

    Department of Orthopaedics, First Faculty of Medicine, Charles University Prague and Teaching Hospital Na Bulovce, Prague 8, Czech Republic.

    Papers in Europe PMC
  6. 06
    Georgiadis AG3 papers · 2025

    Department of Orthopaedic Surgery, Gillette Children's Hospital, Saint Paul, MN, USA.

    Papers in Europe PMC
  7. 07
    Herzenberg JE3 papers · 2024

    Rubin Institute for Advanced Orthopedics, Sinai Hospital of Baltimore, 2401 West Belvedere Avenue, Baltimore, Maryland, 21215, USA. jherzenberg@lifebridgehealth.org.

    Papers in Europe PMC
  8. 08
    Hosny GA3 papers · 2025

    Benha Faculty of Medicine, 53, Misr Helwan Agricultural Street, Maadi, Cairo, Egypt. gamalahosny@yahoo.com

    Papers in Europe PMC
  9. 09
    Segev E3 papers · 2024

    Department of Paediatric Orthopaedics, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

    Papers in Europe PMC
  10. 10
    Wright J3 papers · 2024

    Specialty Registrar, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK. jwrightortho@gmail.com.

    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.

medium 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 Isolated femoral agenesis/hypoplasia — 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.

("Isolated femoral agenesis/hypoplasia" OR "Isolated congenital femoral deficiency" OR "Isolated congenital short femur" OR "Isolated femoral intercalary meromelia" OR "congenital short femur" OR "femoral intercalary meromelia") OR ("FGF8" OR "FGF8 syndrome" OR "FGF8-related")

Run this search on Europe PMC

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

"Isolated femoral agenesis/hypoplasia" OR "Isolated congenital femoral deficiency" OR "Isolated congenital short femur" OR "Isolated femoral intercalary meromelia" OR "congenital short femur" OR "femoral intercalary meromelia"

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

Synonyms dropped by stoplist: CFD; CSF

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:41:22.254Z