ORPHA:50814
Craniolenticulosutural dysplasia
Also known as: Boyadjiev-Jabs syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
33
37.8th percentile
Trials
0
Interventional, condition-specific
Researchers
312
Distinct authors in sample
Gene link
SEC23A
Moderate
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by large and late-closing fontanels (the anterior fontanel may not completely ossify in adulthood) associated with facial dysmorphism and mild generalized skeletal . Patients usually present with short stature, significant hypertelorism and eye abnormalities (early onset cataract and other lens abnormalities, esotropia, optic atrophy). Associated facial features include abnormal hair (sparce and brittle), hyperpigmentation with capillary hemangioma on the forehead, macrocephaly, frontal bossing, wide nasal bridge, long philtrum, large mouth, thin vermilion, high arched palate and abnormal dentition. Other associated morphological abnormalities include vertebral wedging with scoliosis, high and narrow iliac wings, pectus excavatum, joint hypermobility and flat feet.
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:0011911
- MeSH:C564332
- OMIM:607812
- UMLS:C1843042
Additional Mondo synonyms (1)
craniolenticulosutural dysplasia
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.”
2/6 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
Moderate — SEC23A
- LiteraturePresent
33 matched papers (21 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 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?
Probably — there is moderate evidence for SEC23A.
GenCC classification: Moderate.
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?
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=5449) is 41.
33 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).
21 in the last 10 years · high confidence · 37.8th percentile (publications denominator)
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
312
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.
- 01AlTassan R2 papers · 2025
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 02Aschard H2 papers · 2018
Program in Genetic Epidemiology and Statistical Genetics. Department of Epidemiology, Harvard T.H.Chan School of Public Health, 677 Huntington Avenue, Boston, 02115, MA, USA.
Papers in Europe PMC - 03Audhya A2 papers · 2019
Department of Biomolecular Chemistry, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin.
Papers in Europe PMC - 04Boyadjiev SA2 papers · 2015
Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA. simeon.boyd@ucdmc.ucdavis.edu
Papers in Europe PMC - 05Choudhary D2 papers · 2026
Vanderbilt Genetics Institute and Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Papers in Europe PMC - 06Ferreira CR2 papers · 2023
Skeletal Genomics Unit, Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 07Kim J2 papers · 2015
Division of Genomic Medicine, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA. Electronic address: jinoh.kim@ucdmc.ucdavis.edu.
Papers in Europe PMC - 08Knapik EW2 papers · 2026
Vanderbilt Genetics Institute and Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Papers in Europe PMC - 09
- 10Liu Y2 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
"Craniolenticulosutural dysplasia" OR "Boyadjiev-Jabs syndrome"
MeSH descriptor terms unioned into the query: Craniolenticulosutural Dysplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Craniolenticulosutural dysplasia" OR "Boyadjiev-Jabs syndrome" OR "SEC23A"
Recall-expansion terms: SEC23A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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
Ingested 2026-07-27T00:19:28.774Z