ORPHA:2052
Fraser syndrome
Also known as: Cryptophthalmos-syndactyly syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,422
Trials
0
Interventional, condition-specific
Researchers
1,201
Distinct authors in sample
Gene link
FRAS1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009046
- MeSH:D058497
- UMLS:C0265233
- NCIT:C118436
Additional Mondo synonyms (1)
cryptophthalmos-syndactyly 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
Definitive — FRAS1
- LiteraturePresent
1,422 matched papers (711 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 (FRAS1).
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?
1,422
1,422 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,422 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).
711 in the last 10 years · low confidence
Phrase hits: 1,422 · MeSH hits: 0
Who's working on it?
1,201
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.
- 01Moody SA6 papers · 2026
Department of Anatomy & Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Papers in Europe PMC - 02Zhang Y5 papers · 2026
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, 315000, China.
Papers in Europe PMC - 03Zhang J4 papers · 2026
Department of Nephrology, Chongqing Key Laboratory of Prevention and Treatment of Kidney Disease, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, 400037, China.
Papers in Europe PMC - 04Gao X3 papers · 2025
Nephrology Department, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 318 Renmin Middle Road, Guangzhou, 510623, China. gaoxiagz@vip.163.com.
Papers in Europe PMC - 05Hammerschmidt M3 papers · 2024
Institute for Developmental Biology, University of Cologne, Cologne, Germany.
Papers in Europe PMC - 06Jourdeuil K3 papers · 2026
Department of Anatomy and Cell Biology, The George Washington University School of Medicine and Health Sciences, Washington, D.C., United States; Department of Biology, University of Iowa, Iowa City, IA, United States.
Papers in Europe PMC - 07Li G3 papers · 2025
Nephrology Department, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 318 Renmin Middle Road, Guangzhou, 510623, China.
Papers in Europe PMC - 08Lin X3 papers · 2025
Nephrology Department, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 318 Renmin Middle Road, Guangzhou, 510623, China.
Papers in Europe PMC - 09Liu M3 papers · 2025
Guangzhou Institute of Pediatrics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China. michelle_ming@163.com.
Papers in Europe PMC - 10Liu Y3 papers · 2026
Center for Applied Genomics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Fraser syndrome" OR "Cryptophthalmos-syndactyly syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fraser syndrome" OR "Cryptophthalmos-syndactyly syndrome" OR "FRAS1"
Recall-expansion terms: FRAS1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1422) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T18:56:38.245Z