ORPHA:363444
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Also known as: BBIS · Beaulieu-Boycott-Innes syndrome
Publications
284
68.1th percentile
Trials
0
Interventional, condition-specific
Researchers
297
Distinct authors in sample
Gene link
THOC6
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, , syndromic disorder characterized by global development delay, mild microcephaly, mild to severe and non-specific facial dysmorphism in association with variable multiple anomalies including heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent.
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:0013362
- OMIM:613680
- UMLS:C3150939
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
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 — THOC6
- LiteraturePresent
284 matched papers (199 in last 10 years) Source
- Phenotype characterisedPresent
66 HPO annotations (e.g. High forehead; Deeply set eye; Long nose) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (THOC6).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
66
Associated phenotypes · MONDO:0013362
- High forehead
- Deeply set eye
- Long nose
- Retrognathia
- Smooth philtrum
Showing 5 of 66 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-27
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?
284
284 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=3967) is 59.
284 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).
199 in the last 10 years · medium confidence · 68.1th percentile (publications denominator)
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
297
Distinct author names in 33 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.
- 01Boycott KM3 papers · 2017
Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa ON K1H 8L1 Canada.
Papers in Europe PMC - 02Innes AM3 papers · 2017
Department of Medical Genetics Alberta Children's Hospital and Alberta Children's Hospital Research Institute for Child and Maternal Health Cumming School of Medicine University of Calgary Calgary Alberta Canada.
Papers in Europe PMC - 03Elmas M2 papers · 2022
Department of Medical Genetics, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey.
Papers in Europe PMC - 04Ennis S2 papers · 2023
Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Papers in Europe PMC - 05Fan X2 papers · 2026
Laboratory of Genetic and Metabolism, Department of Paediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi.
Papers in Europe PMC - 06Huang L2 papers · 2019
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Papers in Europe PMC - 07Kumar S2 papers · 2026
PhD Program for Cancer Molecular Biology and Drug Discovery, College of Medical Science and Technology, Taipei Medical University, Taipei 11031, Taiwan.
Papers in Europe PMC - 08Lebel RR2 papers · 2024
Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, 13210, USA.
Papers in Europe PMC - 09Lynch SA2 papers · 2025
Children's Health Ireland, Dublin D12 N512, Republic of Ireland.
Papers in Europe PMC - 10
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 9 September 2026 · last trial check 9 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.
medium 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.
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 2026-07-27
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 THOC6-related developmental delay-microcephaly-facial dysmorphism 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.
("THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome" OR "Beaulieu-Boycott-Innes syndrome") OR ("THOC6" OR "THOC6 syndrome" OR "THOC6-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome" OR "Beaulieu-Boycott-Innes syndrome"
Study-type breakdown: 0 interventional · 0 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
Synonyms dropped by stoplist: BBIS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T02:19:39.070Z