ORPHA:2114
Hip dysplasia, Beukes type
Also known as: BFHD · Beukes familial hip dysplasia · Cilliers-Beighton syndrome · Premature degenerative osteoarthropathy of the hip
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
58
48th percentile
Trials
0
Interventional, condition-specific
Researchers
363
Distinct authors in sample
Gene link
UFSP2
Moderate
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007726
- MeSH:C564185
- OMIM:142669
- UMLS:C1840572
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.”
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
Moderate — UFSP2
- LiteraturePresent
58 matched papers (37 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?
Probably — there is moderate evidence for UFSP2.
GenCC classification: Moderate.
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?
58
58 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.
58 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).
37 in the last 10 years · medium confidence · 48th percentile (publications denominator)
Phrase hits: 58 · MeSH hits: 0
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.
- 01Li H4 papers · 2025
BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.
Papers in Europe PMC - 02Wang Y4 papers · 2025
Medical School of Chinese PLA, Beijing, 100853, China. wangyyjspub@163.com.
Papers in Europe PMC - 03Beighton P3 papers · 1999
Department of Human Genetics, University of Cape Town, Medical School, Republic of South Africa.
Papers in Europe PMC - 04Komatsu 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 - 05Chung CH2 papers · 2015
Institute for Protein Metabolism, School of Biological Sciences, Seoul National University , Seoul , South Korea.
Papers in Europe PMC - 06Cilliers HJ2 papers · 1994
Department of Orthopaedic Surgery, Medical School, University of the Orange Free State, National Hospital, Bloemfontein, South Africa.
Papers in Europe PMC - 07Daniel 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 - 08Dudek M2 papers · 2019Papers in Europe PMC
- 09Fatehi F2 papers · 2024
Department of Neurology, Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 10Huang 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 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.
"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"
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" OR "UFSP2" OR "spondyloepiphyseal dysplasia"
Recall-expansion terms: UFSP2, spondyloepiphyseal dysplasia
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
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