ORPHA:438117

Steel syndrome

medium confidenceDisorder

Also known as: Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.

Publications

103

63.9th percentile

Trials

—

Interventional, condition-specific

Researchers

926

Distinct authors in sample

Gene link

COL27A1

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic bone disease characterized by short stature, bilateral hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.

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)

bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome · steel 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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

Gene identifiedPresent
Definitive — COL27A1
LiteraturePresent
103 matched papers (86 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 checked
Trial fetch failed or incomplete

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 (COL27A1).

GenCC classification: Definitive.

COL27A1

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?

103

103 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.

103 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).

86 in the last 10 years · medium confidence · 63.9th percentile (publications denominator)

Phrase hits: 103 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

926

Distinct author names in 103 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

01
Lupski JR6 papers · 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC
02
Girisha KM5 papers · 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Papers in Europe PMC
03
Gibbs RA4 papers · 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Papers in Europe PMC
04
Kenny EE4 papers · 2021
The Center for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: eimear.kenny@mssm.edu.
Papers in Europe PMC
05
Nishimura G4 papers · 2025
Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Papers in Europe PMC
06
Shah H4 papers · 2025
Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
Papers in Europe PMC
07
Abul-Husn NS3 papers · 2021
The Center for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC
08
Boer CG3 papers · 2025
Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, the Netherlands.
Papers in Europe PMC
09
Gignoux CR3 papers · 2021
Colorado Center for Personalized Medicine, Anschutz Medical Campus, University of Colorado, Aurora, Colorado 80045, USA; email: chris.gignoux@ucdenver.edu.
Papers in Europe PMC
10
Pehlivan D3 papers · 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
Papers in Europe PMC

Clinical research

Is a treatment being tested?

—

interventional trials for this specific condition

We could not load trial data for this condition right now.

Data as of 27 July 2026

medium confidence

Recruiting interventional trials

From the matched ClinicalTrials.gov set

Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.

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 2026-07-26

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.

"Steel syndrome" OR "Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome"

Run this search on Europe PMC

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

(empty)

Recall-expansion terms: COL27A1

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Steel%20syndrome%22%20OR%20%22Bilateral%20hip%20and%20radial%20head%20dislocations-short%20stature-scoliosis-carpal%20coalitions-pes%20cavus-facial%20dysmorphism%20syndrome%22%20OR%20%22COL27A1%22&format=json&pageSize=100&countTotal=true

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 2026-07-27T16:11:46.207Z