Medical Definition of Gustavson syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Gustavson syndrome: A disorder first reported in 1999 by Gustavson and colleagues as a new X-linked mental retardation syndrome. In the family they studied there were 7 male children in 2 generations with the syndrome. The affected males were genealogically connected through females who were presumed to be carriers of the gene responsible for the syndrome.

In addition to severe mental retardation, the syndrome includes microcephaly, optic atrophy with severely impaired vision or blindness, severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood.

GUST, the gene that causes Gustavson syndrome, has been shown (through linkage analysis) to be on the X chromosome and to be, specifically, in chromosome band Xq26. At least two other mental retardation syndromes (Borjeson and Pettigrew syndromes) have been mapped to the same region.

Gustavson syndrome is also known as mental retardation with optic atrophy, deafness and seizures.

Reviewed on 9/7/2018

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