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van Maldergem syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

van Maldergem syndrome 1

MONDO:0011070

Also known as:DCHS1 van Maldergem syndromeVan Maldergem syndrome type 1van Maldergem syndrome caused by mutation in DCHS1

Overview

Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.

GeneticsAutosomal recessive · DCHS1 (chr 11)

ResearchLimited published research (5 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: Low muscle tone (hypotonia), Feeding difficulties, Global developmental delay, and Camptodactyly and others; and common findings: Renal hypoplasia, Radial head subluxation, Hypoplasia of the corpus callosum, and Hypoplasia of the maxilla and others. 54 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Joint hypermobility, Mild bone density loss (osteopenia), Skeletal dysplasia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DCHS1 encodes dachsous cadherin-related 1 (3,298 aa). Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. Highest expression in Uterus (67.0 TPM) and Cervix Endocervix (40.8 TPM).

Van Maldergem syndrome 1 is associated with mutations in the DCHS1 gene on chromosome 11.

DCHS1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DCHS1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 7 common features.

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 Maldergem syndrome 1.

5 publications have been identified in PubMed for van Maldergem syndrome 1. Research spans Review / Meta-Analysis (60%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

Byerly K (2026). [PMID: 41972678](https://pubmed.ncbi.nlm.nih.gov/41972678/). *Cells*. [Basic Science / Preclinical]
Wang Y (2025). [PMID: 40797481](https://pubmed.ncbi.nlm.nih.gov/40797481/). *Medicine (Baltimore)*. [Case Report / Case Series]
Brenner E (2025). [PMID: 41439975](https://pubmed.ncbi.nlm.nih.gov/41439975/). *Cells*. [Review / Meta-Analysis]
Rosenblum J (2025). [PMID: 39462795](https://pubmed.ncbi.nlm.nih.gov/39462795/). *Clin Genet*. [Review / Meta-Analysis]
Dahawi M (2024). [PMID: 39574152](https://pubmed.ncbi.nlm.nih.gov/39574152/). *Hum Genomics*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601390

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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van Maldergem syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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