ORPHA:33108
Lethal multiple pterygium syndrome
Also known as: LMPS · Autosomal recessive lethal multiple pterygium syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
126
56.2th percentile
Trials
0
Interventional, condition-specific
Researchers
854
Distinct authors in sample
Gene link
CHRNA1, CHRND, CHRNG
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.
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:0009668
- OMIM:253290
- UMLS:C1854678
- NCIT:C101038
Additional Mondo synonyms (2)
autosomal recessive lethal multiple pterygium syndrome · lethal multiple pterygium 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
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
Strong — CHRNA1, CHRND, CHRNG
- LiteraturePresent
126 matched papers (58 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?
Yes — we know a specific gene responsible (CHRNA1, CHRND, CHRNG).
GenCC classification: Strong.
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?
126
126 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.
126 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).
58 in the last 10 years · medium confidence · 56.2th percentile (publications denominator)
Phrase hits: 126 · MeSH hits: 0
Who's working on it?
854
Distinct author names in 126 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.
- 01Fryns JP6 papers · 2003Papers in Europe PMC
- 02Laing NG6 papers · 2021
Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
Papers in Europe PMC - 03Ravenscroft G5 papers · 2021
Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.
Papers in Europe PMC - 04Chen C3 papers · 2025
Department of Neurology, Rare Disease Medical Center, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian, China. chenchunnuan1983@aliyun.com.
Papers in Europe PMC - 05Chitayat D3 papers · 2019
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Papers in Europe PMC - 06Davis MR3 papers · 2021
PathWest Diagnostic Genomics, Nedlands, Western Australia, Australia.
Papers in Europe PMC - 07Maher ER3 papers · 2014
Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK. erm1000@medschl.cam.ac.uk.
Papers in Europe PMC - 08Moerman P3 papers · 2003
Department of Pathology I, University of Leuven, Belgium.
Papers in Europe PMC - 09Morgan NV3 papers · 2014
Section of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, B15 2TT, UK.
Papers in Europe PMC - 10Pelin K3 papers · 2021
Folkhälsan Institute of Genetics, Folkhälsan Research Center, Biomedicum, Helsinki, Finland.
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.
Broader category multiple pterygium syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: multiple pterygium syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count 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 2026-07-26This 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.
"Lethal multiple pterygium syndrome" OR "Autosomal recessive lethal multiple pterygium syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lethal multiple pterygium syndrome" OR "Autosomal recessive lethal multiple pterygium syndrome" OR "CHRNA1" OR "CHRND" OR "CHRNG"
Recall-expansion terms: CHRNA1, CHRND, CHRNG
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"multiple pterygium syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: LMPS
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 2026-07-26T23:32:11.587Z