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van Maldergem syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

van Maldergem syndrome 2

MONDO:0014242

Also known as:FAT4 van Maldergem syndromeVan Maldergem syndrome type 2van Maldergem syndrome caused by mutation in FAT4

Overview

Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.

GeneticsAutosomal recessive · FAT4 (chr 4)

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: Epicanthus, Hearing loss (hearing impairment), Renal hypoplasia, and Low muscle tone (hypotonia) and others; and common findings: Periventricular nodular heterotopia. 63 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.

FAT4 encodes FAT atypical cadherin 4 (4,981 aa). Cadherins are calcium-dependent cell adhesion proteins. Highest expression in Cells Cultured fibroblasts (21.5 TPM) and Artery Tibial (16.6 TPM).

Van Maldergem syndrome 2 is associated with mutations in the FAT4 gene on chromosome 4.

FAT4 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for FAT4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 27 always present features, 1 common feature.

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 2.

3 publications have been identified in PubMed for van Maldergem syndrome 2. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

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]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615546

GARD

Genetic and Rare Diseases Info Center

GARD:15984

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 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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