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September 23, 2025Alternative Complementary & Integrative MedicineOpen Access

Van Maldergem Syndrome-1 with Central Precocious Puberty: Expanding the Clinical and Genetic Spectrum

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Key Points

The presence of central precocious puberty in patients with van maldergem syndrome-1 indicates expanding clinical implications.
Pathogenic variants in DCHS1 are identified as a key genetic cause of van maldergem syndrome-1.
Understanding these genetic features can aid in better diagnosis and management of affected individuals.
This case adds to the existing literature, showcasing the importance of recognizing diverse clinical presentations.

Implication

Case report highlights clinical aspects of central precocious puberty in van maldergem syndrome-1, expanding genetic insights.

Abstract

Van Maldergem syndrome-1 (VMS-1) is an ultrarare autosomal recessive disorder caused by pathogenic variants in DCHS1

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Cite This Study

Bo Xu (2025) studied this question.

synapsesocial.com/papers/68e5c1ba6950a706b22b529a https://doi.org/10.24966/acim-7562/100627

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Van Maldergem syndrome-1 in a patient with central precocious puberty: A case report.2025 · 1 citations
2A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature ReviewNarrative Review · 2026
3Loss of the DCHS1 Intracellular Domain Expands Neurogenic Proliferation and Generates Van Maldergem-like Neurodevelopmental DefectsOriginal Research · 2026
4Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunctioncross-sectional · 2023 · 6 citations
5From Suspected Congenital Cytomegalovirus Infection to Malan Syndrome: Delayed Genetic Diagnosis Due to Diagnostic AnchoringOriginal Research · 2026

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