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craniolenticulosutural dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniolenticulosutural dysplasia

MONDO:0011911

Also known as:Boyadjiev-Jabs syndromecranio-lenticulo-sutural dysplasia, CLSDCLSD

Overview

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

GeneticsAutosomal recessive · SEC23A (chr 14)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Long philtrum, and Short stature and others; and common findings: Pes planus, Sideways curvature of the spine (scoliosis), Joint hypermobility, and Cryptorchidism. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Mild bone density loss (osteopenia), Sideways curvature of the spine (scoliosis), Joint hypermobility

Genetic Landscape

SEC23A function has not been fully characterized.

Craniolenticulosutural dysplasia is associated with mutations in the SEC23A gene on chromosome 14.

Diagnosis

Genetic testing for SEC23A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 23 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for craniolenticulosutural dysplasia.

2 publications have been identified in PubMed for craniolenticulosutural dysplasia. Research spans Basic Science / Preclinical (100%).

Recent Publications

Choudhary D (2026). [PMID: 41827019](https://pubmed.ncbi.nlm.nih.gov/41827019/). *Genome Med*. [Basic Science / Preclinical]
Bögershausen N (2025). [PMID: 40131364](https://pubmed.ncbi.nlm.nih.gov/40131364/). *JCI Insight*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607812

Orphanet

European rare disease database

Orphanet:50814

GARD

Genetic and Rare Diseases Info Center

GARD:16647

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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craniolenticulosutural dysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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