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ORPHA:800

Schwartz-Jampel syndrome

medium confidenceDisorder

Also known as: Aberfeld syndrome · Burton skeletal dysplasia · Burton syndrome · Catel-Hempel syndrome · Dysostosis enchondralis metaepiphysaria, Catel-Hempel type · Myotonic chondrodystrophy · Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies · Osteochondromuscular dystrophy · SJS · SJS1 · Schwartz-Jampel syndrome type 1 · Schwartz-Jampel-Aberfeld syndrome

Publications

461

66.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,182

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip ).

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 (8)

Catel-Hempel type dysostosis enchondralis metaepiphysaria · Schwartz Jampel Syndrome · burton skeletal dysplasia · burton syndrome · dysostosis enchondralis metaepiphysaria, Catel-Hempel type · myotonic chondrodystrophy · myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies · osteochondromuscular dystrophy

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    461 matched papers (184 in last 10 years) Source

  3. Phenotype characterisedPresent

    304 HPO annotations (e.g. Abnormality of the ureter; Abnormality of the urinary system; Trismus) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

304

Associated phenotypes · MONDO:0009717

  • Abnormality of the ureter
  • Abnormality of the urinary system
  • Trismus
  • High palate
  • Full cheeks

Showing 5 of 304 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

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?

461

461 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.

461 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).

184 in the last 10 years · medium confidence · 66.7th percentile (publications denominator)

Phrase hits: 461 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,182

Distinct author names in 200 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
    Nicole S8 papers · 2014

    INSERM U546, Faculté de Médecine Pitié-Salpêtriére, Paris, France.

    Papers in Europe PMC
  2. 02
    Fontaine B7 papers · 2013
    Papers in Europe PMC
  3. 03
    Arikawa-Hirasawa E6 papers · 2025

    Research Institute for Diseases of Old Age, Juntendo University Graduate School of Medicine, Tokyo 113-8421, Japan.

    Papers in Europe PMC
  4. 04
    Davoine CS5 papers · 2013
    Papers in Europe PMC
  5. 05
    Farach-Carson MC5 papers · 2020

    Department of Bioengineering, Rice University, Houston, TX 77005, USA. mary.c.farachcarson@uth.tmc.edu.

    Papers in Europe PMC
  6. 06
    Ohno K5 papers · 2024

    Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.

    Papers in Europe PMC
  7. 07
    Iozzo RV4 papers · 2024

    a Department of Pathology , Anatomy and Cell Biology and the Cancer Cell Biology and Signalling Program, Kimmel Cancer Centre, Sidney Kimmel Medical College at Thomas Jefferson University , Philadelphia , PA , USA.

    Papers in Europe PMC
  8. 08
    Stum M4 papers · 2013

    Inserm UMRS 546, Paris, France.

    Papers in Europe PMC
  9. 09
    Bangratz M3 papers · 2012

    INSERM, U975, Research Center of the Brain and Spinal Cord Institute, U975, Paris, France.

    Papers in Europe PMC
  10. 10
    Bix GJ3 papers · 2023

    Department of Neurosurgery, Clinical Neuroscience Research Center, Tulane University School of Medicine, New Orleans, LA 70112, USA.

    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 Schwartz-Jampel syndrome — 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.

"Schwartz-Jampel syndrome" OR "Aberfeld syndrome" OR "Burton skeletal dysplasia" OR "Burton syndrome" OR "Catel-Hempel syndrome" OR "Dysostosis enchondralis metaepiphysaria, Catel-Hempel type" OR "Myotonic chondrodystrophy" OR "Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" OR "Osteochondromuscular dystrophy" OR "Schwartz-Jampel syndrome type 1" OR "Schwartz-Jampel-Aberfeld syndrome" OR "Catel-Hempel type dysostosis enchondralis metaepiphysaria" OR "Schwartz Jampel Syndrome"

Run this search on Europe PMC

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

"Schwartz-Jampel syndrome" OR "Aberfeld syndrome" OR "Burton skeletal dysplasia" OR "Burton syndrome" OR "Catel-Hempel syndrome" OR "Dysostosis enchondralis metaepiphysaria, Catel-Hempel type" OR "Myotonic chondrodystrophy" OR "Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" OR "Osteochondromuscular dystrophy" OR "Schwartz-Jampel syndrome type 1" OR "Schwartz-Jampel-Aberfeld syndrome" OR "Catel-Hempel type dysostosis enchondralis metaepiphysaria" OR "Schwartz Jampel Syndrome"

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: SJS; SJS1

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 2026-07-26T15:24:26.297Z