Gustavson syndrome, also known as Severe X-linked intellectual disability, Gustavson type, is a rare genetic disorder which is characterized by severe intellectual disabilities, microcephaly, developmental delay, optic atrophy-induced severe vision impairment/loss, severe hearing loss, spasticity, epilepsy, hypomobility of major joints, facial dysmorphisms (such as large ears and short nose), and premature death (occurring mainly during infancy or early childhood).[1][2][3] This disorder was first discovered in 1993, by Gustavson et al., when they described 7 male children from a 2-generation family, these children had the symptoms mentioned above, they (Gustavson et al.) came to the conclusion that this case was part of a novel X-linked recessive syndrome.[4] No new cases have been reported since then (1993).[5]
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