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ORPHA:2114

Hip dysplasia, Beukes type

medium confidenceDisorder

Also known as: BFHD · Beukes familial hip dysplasia · Cilliers-Beighton syndrome · Premature degenerative osteoarthropathy of the hip

Publications

372

75.7th percentile

Trials

0

Interventional, condition-specific

Researchers

363

Distinct authors in sample

Gene link

UFSP2

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A primary bone , characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

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 (2)

hip dysplasia, Beukes type · premature degenerative osteoarthropathy of the hip

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

    Moderate — UFSP2

  2. LiteraturePresent

    372 matched papers (300 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Hip dysplasia; Scoliosis; Osteoarthritis) 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?

Probably — there is moderate evidence for UFSP2.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

19

Associated phenotypes · MONDO:0007726

  • Hip dysplasia
  • Scoliosis
  • Osteoarthritis
  • Kyphosis
  • Coxa vara

Showing 5 of 19 — 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?

372

372 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=3967) is 59.

372 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).

300 in the last 10 years · medium confidence · 75.7th percentile (publications denominator)

Phrase hits: 58 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

363

Distinct author names in 58 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
    Li H4 papers · 2025

    BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.

    Papers in Europe PMC
  2. 02
    Wang Y4 papers · 2025

    Medical School of Chinese PLA, Beijing, 100853, China. wangyyjspub@163.com.

    Papers in Europe PMC
  3. 03
    Beighton P3 papers · 1999

    Department of Human Genetics, University of Cape Town, Medical School, Republic of South Africa.

    Papers in Europe PMC
  4. 04
    Komatsu M3 papers · 2023

    Department of Physiology, Juntendo University Graduate School of Medicine, Bunkyo-ku, Tokyo, 113-8421, Japan. mkomatsu@juntendo.ac.jp.

    Papers in Europe PMC
  5. 05
    Chung CH2 papers · 2015

    Institute for Protein Metabolism, School of Biological Sciences, Seoul National University , Seoul , South Korea.

    Papers in Europe PMC
  6. 06
    Cilliers HJ2 papers · 1994

    Department of Orthopaedic Surgery, Medical School, University of the Orange Free State, National Hospital, Bloemfontein, South Africa.

    Papers in Europe PMC
  7. 07
    Daniel J2 papers · 2014

    Department of Molecular Physiology, Westfälische Wilhelms-University Münster, Schlossplatz 8, D-48143 Münster, Germany. j_dani02@uni-muenster.de.

    Papers in Europe PMC
  8. 08
    Dudek M2 papers · 2019
    Papers in Europe PMC
  9. 09
    Fatehi F2 papers · 2024

    Department of Neurology, Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  10. 10
    Huang J2 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, 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 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Hip dysplasia, Beukes type — 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.

("Hip dysplasia, Beukes type" OR "Beukes familial hip dysplasia" OR "Cilliers-Beighton syndrome" OR "Premature degenerative osteoarthropathy of the hip" OR "Premature degenerative osteoarthropathy of hip") OR ("UFSP2" OR "UFSP2 syndrome" OR "UFSP2-related")

Run this search on Europe PMC

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

"Hip dysplasia, Beukes type" OR "Beukes familial hip dysplasia" OR "Cilliers-Beighton syndrome" OR "Premature degenerative osteoarthropathy of the hip" OR "Premature degenerative osteoarthropathy of hip"

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: BFHD

Confidence reasoning

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

Ingested 2026-07-26T19:09:09.882Z