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ORPHA:137776

Lethal congenital contracture syndrome type 2

high confidenceDisorder

Also known as: LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

Publications

85

53th percentile

Trials

5

Interventional, condition-specific

Researchers

709

Distinct authors in sample

Gene link

ERBB3

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Lethal contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.

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 (6)

ERBB3 lethal congenital contracture syndrome · lethal congenital contractural syndrome 2 · lethal congenital contracture syndrome 2 · lethal congenital contracture syndrome caused by mutation in ERBB3 · lethal congenital contracture syndrome type 2 · multiple contracture syndrome, Israeli-Bedouin 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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — ERBB3

  2. LiteraturePresent

    85 matched papers (49 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov

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 (ERBB3).

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?

85

85 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.

85 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).

49 in the last 10 years · high confidence · 53th percentile (publications denominator)

Phrase hits: 85 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

709

Distinct author names in 85 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.

  1. 01
    Ackerman MJ4 papers · 2012
    Papers in Europe PMC
  2. 02
    Vandenberg JI4 papers · 2021

    From the Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, 405 Liverpool Street and St. Vincent's Clinical School, University of New South Wales, Victoria Street, Darlinghurst, New South Wales 2010, Australia j.vandenberg@victorchang.edu.au.

    Papers in Europe PMC
  3. 03
    Birk OS3 papers · 2007
    Papers in Europe PMC
  4. 04
    Elbedour K3 papers · 2007
    Papers in Europe PMC
  5. 05
    Landau D3 papers · 2007
    Papers in Europe PMC
  6. 06
    Manor E3 papers · 2007
    Papers in Europe PMC
  7. 07
    Narkis G3 papers · 2007

    Morris Kahn Laboratory of Human Genetics, National Institute of Biotechnology in Negev, Beer-Sheva, Israel.

    Papers in Europe PMC
  8. 08
    Ng CA3 papers · 2021

    From the Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, 405 Liverpool Street and St. Vincent's Clinical School, University of New South Wales, Victoria Street, Darlinghurst, New South Wales 2010, Australia.

    Papers in Europe PMC
  9. 09
    Ofir R3 papers · 2007
    Papers in Europe PMC
  10. 10
    Perry MD3 papers · 2021

    From the Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, 405 Liverpool Street and St. Vincent's Clinical School, University of New South Wales, Victoria Street, Darlinghurst, New South Wales 2010, Australia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

high confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-26

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.

"Lethal congenital contracture syndrome type 2" OR "LCCS2" OR "Multiple contracture syndrome, Israeli-Bedouin type" OR "ERBB3 lethal congenital contracture syndrome" OR "lethal congenital contractural syndrome 2" OR "lethal congenital contracture syndrome 2" OR "lethal congenital contracture syndrome caused by mutation in ERBB3"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Lethal Congenital Contracture Syndrome 2

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

"Lethal congenital contracture syndrome type 2" OR "LCCS2" OR "Multiple contracture syndrome, Israeli-Bedouin type" OR "ERBB3 lethal congenital contracture syndrome" OR "lethal congenital contractural syndrome 2" OR "lethal congenital contracture syndrome 2" OR "lethal congenital contracture syndrome caused by mutation in ERBB3" OR "ERBB3"

Recall-expansion terms: ERBB3

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 5 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"lethal congenital contracture syndrome"

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

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 2026-07-27T07:28:53.864Z