ORPHA:2745
Opitz GBBB syndrome
Also known as: Hypertelorism-hypospadias syndrome · Hypertelorism-oesophageal abnormality-hypospadias syndrome · Hypospadias-dysphagia syndrome · Opitz BBB/G syndrome · Opitz BBBG syndrome · Opitz G/BBB syndrome · Opitz-Frias syndrome
Publications
7,932
Trials
9
Interventional, condition-specific
Researchers
1,360
Distinct authors in sample
Gene link
—
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare X-linked midline syndrome characterized by hypertelorism, laryngo-tracheo-esophageal defects and hypospadias.
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:0017138
- NCIT:C125487
Additional Mondo synonyms (6)
Opitz G syndrome · Opitz syndrome · Opitz-GBBB syndrome · hypertelorism-oesophageal abnormality-hypospadias syndrome · hypospadias-dysphagia syndrome · hypospadias-hypertelorism 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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
7,932 matched papers (3,897 in last 10 years) Source
- Phenotype characterisedPresent
115 HPO annotations (e.g. Wide anterior fontanel; Agenesis of corpus callosum; Gastroesophageal reflux) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
9 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
115
Associated phenotypes · MONDO:0017138
- Wide anterior fontanel
- Agenesis of corpus callosum
- Gastroesophageal reflux
- Posteriorly rotated ears
- Cerebellar vermis hypoplasia
Showing 5 of 115 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Mid1tm1Mero/Y [background:] B6.Cg-Mid1tm1Mero·MGI:4437568·Mus musculus
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?
7,932
7,932 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
7,932 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).
3,897 in the last 10 years · low confidence
Phrase hits: 7,932 · MeSH hits: 0
Who's working on it?
1,360
Distinct author names in 200 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.
- 01Meroni G6 papers · 2024
Department of Life Sciences, University of Trieste, 34127 Trieste, Italy.
Papers in Europe PMC - 02
- 03Berecz T3 papers · 2025Papers in Europe PMC
- 04Bhoj EJ3 papers · 2020
Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Papers in Europe PMC - 05Haltrich I3 papers · 2026
Tűzoltó Street Department, Pediatric Center, Semmelweis University, Budapest, Hungary.
Papers in Europe PMC - 06Huang X3 papers · 2025
Plastic Surgery Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Papers in Europe PMC - 07Li D3 papers · 2023
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Papers in Europe PMC - 08Li L3 papers · 2026
Department of Obstetrics and Gynecology Laboratory, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu 215000, China.
Papers in Europe PMC - 09Mascaro M3 papers · 2024
Department of Life Sciences, University of Trieste, 34127 Trieste, Italy.
Papers in Europe PMC - 10Song Y3 papers · 2026
Program in Biomedical Science & Engineering, Inha University, Incheon, Republic of Korea.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
9
interventional trials for this specific condition
9 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026
9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).
low confidence · 92th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
9 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.
Observational and natural-history studies
9 observational studies match 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.
Recruiting or not-yet-recruiting
- NCT03303716·RECRUITING·ASXL-Related Disorders Natural History Study
Not reviewed·Conditions: Bohring-Opitz Syndrome · ASXL1 Gene Mutation · Shashi-Pena Syndrome · ASXL2 Gene Mutation·Matched via name phrase
- NCT05047354·RECRUITING·Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
Not reviewed·Conditions: Smith Lemli Opitz Syndrome · CHILD Syndrome · Lathosterolosis · Desmosterolosis·Matched via name phrase
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Not reviewed·Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Opitz GBBB syndrome — check Associations / patient organisations on that page.
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.
"Opitz GBBB syndrome" OR "Hypertelorism-hypospadias syndrome" OR "Hypertelorism-oesophageal abnormality-hypospadias syndrome" OR "Hypospadias-dysphagia syndrome" OR "Opitz BBB/G syndrome" OR "Opitz BBBG syndrome" OR "Opitz G/BBB syndrome" OR "Opitz-Frias syndrome" OR "Opitz G syndrome" OR "Opitz syndrome" OR "Opitz-GBBB syndrome" OR "hypospadias-hypertelorism syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Opitz GBBB syndrome" OR "Hypertelorism-hypospadias syndrome" OR "Hypertelorism-oesophageal abnormality-hypospadias syndrome" OR "Hypospadias-dysphagia syndrome" OR "Opitz BBB/G syndrome" OR "Opitz BBBG syndrome" OR "Opitz G/BBB syndrome" OR "Opitz-Frias syndrome" OR "Opitz G syndrome" OR "Opitz syndrome" OR "Opitz-GBBB syndrome" OR "hypospadias-hypertelorism syndrome"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 9 interventional · 9 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (7932) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T21:02:50.983Z