Arthrogryposis-hyperkeratosis syndrome, lethal form

Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.

Also known as: Johnston-Aarons-Schelley syndrome, Johnston Aarons Schelley syndrome, Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns, arthrogryposis with hyperkeratosis

5 clinical trials for this condition and its sub-types.