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.
MONDO:0015168
arthrogryposis multiplex congenita
is_a
Johnston Aarons Schelley syndrome
related
Johnston-Aarons-Schelley syndrome
exact
Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns
related