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

Rare Disease

van Maldergem syndrome

MONDO:0017813

Also known as:cerebro-facio-articular syndromeVan Maldergem Wetzburger Verloes syndromecerebro-facio-articular syndrome of Van Maldergem

Overview

A rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

ResearchLimited published research (4 articles)

Prognosis

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 van Maldergem syndrome.

5 publications have been identified in PubMed for van Maldergem syndrome. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Byerly K (2026). [PMID: 41972678](https://pubmed.ncbi.nlm.nih.gov/41972678/). *Cells*. [Basic Science / Preclinical]
Rosenblum J (2025). [PMID: 39462795](https://pubmed.ncbi.nlm.nih.gov/39462795/). *Clin Genet*. [Review / Meta-Analysis]
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]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 5:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:314679

GARD

Genetic and Rare Diseases Info Center

GARD:5456

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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van Maldergem syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team