Luscan-Lumish syndrome

Luscan-Lumish syndrome (LLS), also known as SETD2-related overgrowth syndrome, is rare congenital disorder characterized by postnatal overgrowth, obesity, Chiari malformation, seizures, and intellectual disability. Mutations in the SET domain-containing protein 2 (SETD2) gene, which encodes a histone methyltransferase, are linked to LLS, although the mechanisms driving this syndrome are not well understood.