Abstract
Malan syndrome, also known as Sotos syndrome 2, is an autosomal dominant overgrowth disorder characterized by mild to moderate overgrowth, intellectual disability, speech delay, and dysmorphic features. Malan syndrome is caused by pathogenic variants in nuclear factor I X, also known NFIX, located at 19p13.2. The NFIX gene is important for stem cell proliferation, quiescence, and differentiation during development and adulthood. While most previously reported cases of Malan syndrome result from de novo pathogenic variants, germline mosaicism has been reported in a few individuals.
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