Sutherland-Haan syndrome

Definition

Sutherland-Haan syndrome is an inherited X-linked disorder characterized by mental retardation, small head circumference, small testes, and spastic diplegia. Grant Sutherland and co-workers first described the syndrome in 1988. At present, it has only been fully described in one single, large, Australian family. Thus, it is unknown if the disorder occurs worldwide or only in certain ethnic and racial groups. Since the responsible gene is located on the X chromosome, Sutherland-Haan syndrome is exclusively found in males. As the gene is unknown and only one family has been described (although there are families suspected of having Sutherland-Haan) the prevalence is unknown.

Description

Sutherland-Haan syndrome...

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