Helsmoortel–Van der Aa syndrome (HVDAS) is a rare neurodevelopmental disorder caused by pathogenic variants in the ADNP gene. Individuals with HVDAS present with a broad spectrum of clinical features, including developmental delay, autism spectrum disorder, speech and language impairments, and a range of medical comorbidities. Due to the rarity of the syndrome, the available knowledge has been scattered across numerous case reports and small patient cohorts.
To provide a comprehensive overview of the current state of knowledge, we conducted a systematic literature review in which all published clinical data on individuals with HVDAS were collected and analysed. This review describes the clinical spectrum of the syndrome, explores genotype–phenotype correlations, and identifies important knowledge gaps that will help guide future research. The findings also provide an important foundation for the development of international clinical guidelines for the diagnosis, management, and follow-up of individuals with HVDAS.
Publication:
Harutyunyan, L., D'Incal, C. P., Jansen, A. C., Meeuwissen, M., Van Dijck, A., & Kooy, R. F. (2025). A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome. Brain Sciences, 16(1), 4. https://doi.org/10.3390/brainsci16010004
