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van den Bosch syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

van den Bosch syndrome

MONDO:0010754

Also known as:mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity

Overview

A syndrome characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion.

GeneticsX-linked

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: Anhidrosis, Bone and joint problems (abnormality of the skeletal system), Acrokeratosis, and Choroideremia and 1 more.

Organ System	Phenotype Count	Example Features
Skin	1	Anhidrosis
Bones and joints

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 van den Bosch syndrome.

14 publications have been identified in PubMed for van den Bosch syndrome. Research spans Clinical Trial Publication (31%), Basic Science / Preclinical (31%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Clinical study results	4	31%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:314500

Orphanet

European rare disease database

Orphanet:3417

GARD

Genetic and Rare Diseases Info Center

GARD:5453

Questions for Your Care Team

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van den Bosch syndrome

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

van den Bosch syndrome

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications