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arthrogryposis-hyperkeratosis syndrome, lethal form

Disease Summary
Associated Targets ()

Mondo Description 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 Term and Equivalent IDs
MONDO:0008826:  arthrogryposis-hyperkeratosis syndrome, lethal form
GARD:0003053: 
MESH:C535883: 
Orphanet:1485: 
SCTID:726620005: 
UMLS:C1859710: