ORPHA:1486
Lethal congenital contracture syndrome type 1
Also known as: Herva disease · LCCS1 · Multiple contracture syndrome, Finnish type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
97
59.2th percentile
Trials
0
Interventional, condition-specific
Researchers
592
Distinct authors in sample
Gene link
GLE1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Lethal contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
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:0009670
- MeSH:C537194
- OMIM:253310
- UMLS:C1854664
Additional Mondo synonyms (5)
GLE1 lethal congenital contracture syndrome · lethal congenital contracture syndrome 1 · lethal congenital contracture syndrome caused by mutation in GLE1 · lethal congenital contracture syndrome type 1 · multiple contracture syndrome, Finnish type
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
Definitive — GLE1
- LiteraturePresent
97 matched papers (67 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 (GLE1).
GenCC classification: Definitive.
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?
97
97 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.
97 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).
67 in the last 10 years · high confidence · 59.2th percentile (publications denominator)
Phrase hits: 97 · MeSH hits: 0
Who's working on it?
592
Distinct author names in 97 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.
- 01Wente SR13 papers · 2020
Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232.
Papers in Europe PMC - 02Kuure S6 papers · 2026
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.
Papers in Europe PMC - 03Aditi5 papers · 2019
Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232.
Papers in Europe PMC - 04Folkmann AW5 papers · 2015
Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232.
Papers in Europe PMC - 05Hinttala R5 papers · 2025
Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland.
Papers in Europe PMC - 06Sipilä P4 papers · 2025
Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20014 Turku, Finland.
Papers in Europe PMC - 07Zárybnický T4 papers · 2026
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, P.O. Box 63, 00014 Helsinki, Finland.
Papers in Europe PMC - 08Bolger TA3 papers · 2017
Department of Cell and Developmental Biology, Vanderbilt University Medical Center, U-3209 MRBIII, 465 21st Avenue South, Nashville, TN 37232-8240, USA.
Papers in Europe PMC - 09Dawson TR3 papers · 2019
Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37240-7935, USA.
Papers in Europe PMC - 10Denecke J3 papers · 2019
Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
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.
high 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 lethal congenital contracture 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: lethal congenital contracture 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 congenital contracture syndrome type 1" OR "Herva disease" OR "LCCS1" OR "Multiple contracture syndrome, Finnish type" OR "GLE1 lethal congenital contracture syndrome" OR "lethal congenital contracture syndrome 1" OR "lethal congenital contracture syndrome caused by mutation in GLE1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lethal congenital contracture syndrome type 1" OR "Herva disease" OR "LCCS1" OR "Multiple contracture syndrome, Finnish type" OR "GLE1 lethal congenital contracture syndrome" OR "lethal congenital contracture syndrome 1" OR "lethal congenital contracture syndrome caused by mutation in GLE1" OR "GLE1"
Recall-expansion terms: GLE1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"lethal congenital contracture syndrome"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T17:31:42.380Z