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Malan Syndrome Foundation


The Malan Syndrome Foundation is a US-based charitable organization. Its mission is to improve the lives of individuals and families affected by Malan syndrome through support, outreach and research. The Foundation supports research that explore pathways to treatments and cures, as well as enhance understanding of Malan syndrome and related disorders.

Malan syndrome is a rare neurodevelopmental and childhood overgrowth disorder caused by de novo variants in the protein-coding gene NFIX. Clinical features associated with the disorder include global developmental delay/intellectual disability, autistic-like traits, epilepsy, vision impairment, and musculoskeletal and cardiovascular abnormalities.

Special areas of interest:

  • Creating novel disease models that replicate the human phenotype;
  • Increase understanding of mechanisms regulating NFIX gene expression; identification of druggable targets that can increase NFIX expression and rescue haploinsufficient phenotype;
  • Identification of molecular pathophysiology associated with Malan syndrome in the central nervous system as well as in cardiovascular, orthopedic, neuro-ophthalmologic, gastrointestinal and other pertinent areas that can inform translational research for drug discovery.

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