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ORPHA:2052

Fraser syndrome

low confidenceDisorder

Also known as: Cryptophthalmos-syndactyly syndrome

Publications

2,420

Trials

0

Interventional, condition-specific

Researchers

1,201

Distinct authors in sample

Gene link

FRAS1

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — FRAS1

  2. LiteraturePresent

    2,420 matched papers (1,492 in last 10 years) Source

  3. Phenotype characterisedPresent

    179 HPO annotations (e.g. Absent eyebrow; Absent eyelashes; Laryngeal stenosis) Source

  4. Animal modelPresent

    18 genotype models (Mus musculus, Rattus norvegicus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

179

Associated phenotypes · MONDO:0009046

  • Absent eyebrow
  • Absent eyelashes
  • Laryngeal stenosis
  • Choanal stenosis
  • Pulmonary hyperplasia

Showing 5 of 179 — open Monarch for the full list.

Animal models (Monarch / Alliance)

18

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,420

2,420 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=3967) is 59.

2,420 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,492 in the last 10 years · low confidence

Phrase hits: 1,422 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Moody 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
  2. 02
    Zhang 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
  3. 03
    Zhang 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
  4. 04
    Gao 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
  5. 05
    Hammerschmidt M3 papers · 2024

    Institute for Developmental Biology, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  6. 06
    Jourdeuil 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
  7. 07
    Li 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
  8. 08
    Lin 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
  9. 09
    Liu 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
  10. 10
    Liu 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (5)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Fraser syndrome — check Associations / patient organisations on that page.

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.

("Fraser syndrome" OR "Cryptophthalmos-syndactyly syndrome") OR ("FRAS1" OR "FRAS1 syndrome" OR "FRAS1-related")

Run this search on Europe PMC

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

"Fraser syndrome" OR "Cryptophthalmos-syndactyly syndrome"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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 (2420) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T18:56:38.245Z