arthrogryposis-hyperkeratosis syndrome, lethal form
MONDO:0008826Mondo
Findings
No curated finding names arthrogryposis-hyperkeratosis syndrome, lethal form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008826), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: arthrogryposis-hyperkeratosis syndrome, lethal form
- Also called
- Johnston-Aarons-Schelley syndrome