ORPHA:363444
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Also known as: BBIS · Beaulieu-Boycott-Innes syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
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.
Is anyone studying this?
33
33 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=183) is 38.
33 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
30 in the last 10 years · medium confidence · 45.4th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (THOC6).
GenCC classification: Definitive.
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
Recruiting interventional trials
Trials testing a treatment 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 above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below but are not added to the query string.
"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome" OR "Beaulieu-Boycott-Innes syndrome"
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" OR "THOC6"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:613680 UMLS:C3150939
Query health: suspect — strategies attempted: phrase, recall-expansion; 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