ORPHA:412022
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Also known as: FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome · Traboulsi syndrome
Publications
55
53.9th percentile
Trials
1
Interventional, condition-specific
Researchers
306
Distinct authors in sample
Gene link
ASPH
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.
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:0011106
- MeSH:C563293
- OMIM:601552
- UMLS:C1832167
Additional Mondo synonyms (2)
facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome · facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — ASPH
- LiteraturePresent
55 matched papers (52 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 trialPresent
1 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 (ASPH).
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?
55
55 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.
55 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).
52 in the last 10 years · high confidence · 53.9th percentile (publications denominator)
Phrase hits: 55 · MeSH hits: 0
Who's working on it?
306
Distinct author names in 55 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.
- 01Schofield CJ8 papers · 2026
Chemistry Research Laboratory, University of Oxford, OX1 3TA Oxford, United Kingdom christopher.schofield@chem.ox.ac.uk.
Papers in Europe PMC - 02Brewitz L7 papers · 2026
Chemistry Research Laboratory, University of Oxford, OX1 3TA Oxford, United Kingdom.
Papers in Europe PMC - 03Chandran P4 papers · 2021
Department of Glaucoma, Aravind Eye Hospital, Coimbatore, Tamil Nadu, India.
Papers in Europe PMC - 04Senthil S3 papers · 2026
VST Centre for Glaucoma Care, LV Prasad Eye Institute , Hyderabad, India.
Papers in Europe PMC - 05Tumber A3 papers · 2020
Chemistry Research Laboratory, University of Oxford, OX1 3TA Oxford, United Kingdom.
Papers in Europe PMC - 06Venkataraman P3 papers · 2021
Department of Glaucoma, Aravind Eye Hospital, Coimbatore, Tamil Nadu, India.
Papers in Europe PMC - 07Anand D2 papers · 2018
Department of Biological Sciences, University of Delaware, Newark, DE, USA.
Papers in Europe PMC - 08
- 09Clayton-Smith J2 papers · 2023
Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK.
Papers in Europe PMC - 10Jia X2 papers · 2024
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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.
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.
"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" OR "FDLAB syndrome" OR "Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome" OR "Traboulsi syndrome"
MeSH descriptor terms unioned into the query: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome" OR "FDLAB syndrome" OR "Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome" OR "Traboulsi syndrome" OR "Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism" OR "ASPH"
Recall-expansion terms: ASPH
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T15:42:40.603Z