/arthrogryposis-hyperkeratosis syndrome, lethal form

arthrogryposis-hyperkeratosis syndrome, lethal form

Rare Disease

MONDO:0008826

Also Known As

Johnston-Aarons-Schelley syndromeJohnston Aarons Schelley syndromeJoint contractures, hyperkeratosis, and severe hypoplasia of the posterior columnsarthrogryposis with hyperkeratosis

Definition

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.