Malan syndrome, first diagnosed in 2010, is a rare genetic disorder characterized by macrocephaly, cognitive impairment, epilepsy, vision/hearing impairment, heart abnormalities, and scoliosis.  Individuals with Malan syndrome have a change in the NFIX gene. Approximately 350 individuals, mainly children, have been diagnosed with Malan syndrome worldwide. There is limited understanding of the syndrome and how it progresses.  Currently, no disease-modifying treatments exist.

The mission of the Malan Syndrome Foundation is to improve the lives of those affected by Malan syndrome in the global community through support, outreach and research.  We aim to:

(1) Provide a broad network of support to families affected by Malan syndrome and help advance access to a diagnosis; (2) Promote knowledge development, awareness and sharing of information; and (3) Explore research pathways to treatments and cures, as well as enhance understanding of Malan syndrome and related disorders.

Please consider donating to the Malan Syndrome Foundation.  More than 95% of all donations go directly to support research, outreach and family educational conferences.

Malan Syndrome Foundation

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Malan Syndrome Foundation

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