ORPHA:2990
Autosomal recessive multiple pterygium syndrome
Also known as: Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS · Escobar syndrome · Escobar variant multiple pterygium syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
174
63.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,249
Distinct authors in sample
Gene link
CHRNG
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by pterygia (webbing) mainly affecting the neck and large joints, arthrogryposis multiplex, short stature, and craniofacial dysmorphism (including ptosis, downslanting palpebral fissures, high-arched palate, and retrognathia). Additional manifestations are decreased movements, facial weakness, respiratory distress, vertebral anomalies, scoliosis, anomalies of the fingers, and cryptorchidism, among others. The disease is a non-lethal variant of multiple pterygium syndrome.
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:0009926
- OMIM:265000
- UMLS:C0265261
- NCIT:C101039
Additional Mondo synonyms (3)
autosomal recessive multiple pterygium syndrome · autosomal recessive non-lethal multiple pterygium syndrome · multiple pterygium syndrome, autosomal recessive
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 — CHRNG
- LiteraturePresent
174 matched papers (85 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 (CHRNG).
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?
174
174 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.
174 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).
85 in the last 10 years · high confidence · 63.7th percentile (publications denominator)
Phrase hits: 174 · MeSH hits: 0
Who's working on it?
1,249
Distinct author names in 174 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.
- 01Lochmüller H5 papers · 2024
Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Papers in Europe PMC - 02Maher ER5 papers · 2020
Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham, UK.
Papers in Europe PMC - 03Beeson D4 papers · 2020
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 04Dieterich K4 papers · 2021
Department of Medical Genetics, Reference Center for Developmental Anomalies, Centre Hospitalier Universitaire de Grenoble Alpes, Grenoble, France.
Papers in Europe PMC - 05Greggi T4 papers · 2015
Spine Surgery Division, Rizzoli Orthopaedic Institute, Bologna, Italy. tiziana.greggi@ior.it.
Papers in Europe PMC - 06Jungbluth H4 papers · 2023
Department of Pediatric Neurology (Y.H., S.B., D.C., M.L., H.J.), Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom; Department of Clinical Neurology (Y.H., L.W.J., A.V.), Oxford University, Oxford; Department of Neurology (F.N.), Department of Neonatology (A.L.), Randall Division for Cell and Molecular Biophysics (H.J.), Muscle Signaling Section, and Department of Basic and Clinical Neuroscience Division (H.J.), IoP, King's College, London, United Kingdom; Dubowitz Neuromuscular Centre (S.R.), Great Ormond Street Hospital for Children, London, United Kingdom; Unit of Clinical Neurophysiology (R.D.), Department of Neuroscience and Mental Health and Neonatal Intensive Care Unit (M.F.), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy; and Department of Pediatrics (A.P.B.), Rigshospitalet, Copenhagen University Hospital, Denmark.
Papers in Europe PMC - 07Morgan NV4 papers · 2014
Section of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, B15 2TT, UK.
Papers in Europe PMC - 08Moslemi AR4 papers · 2016
Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, SE-413 45, Gothenburg, Sweden.
Papers in Europe PMC - 09Tajsharghi H4 papers · 2016
Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, SE-413 45 Gothenburg, Sweden. homa.tajsharghi@pathology.gu.se
Papers in Europe PMC - 10Vincent A4 papers · 2023
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
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 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.
"Autosomal recessive multiple pterygium syndrome" OR "Autosomal recessive non-lethal multiple pterygium syndrome" OR "EVMPS" OR "Escobar syndrome" OR "Escobar variant multiple pterygium syndrome" OR "multiple pterygium syndrome, autosomal recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive multiple pterygium syndrome" OR "Autosomal recessive non-lethal multiple pterygium syndrome" OR "EVMPS" OR "Escobar syndrome" OR "Escobar variant multiple pterygium syndrome" OR "multiple pterygium syndrome, autosomal recessive" OR "CHRNG" OR "autosomal genetic disease"
Recall-expansion terms: CHRNG, autosomal genetic disease
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
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 2026-07-26T21:56:21.493Z