Arthrogryposis-hyperkeratosis syndrome, lethal form

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Arthrogryposis-hyperkeratosis syndrome, lethal form

Synonyms: Johnston-Aarons-Schelley syndrome

A rare arthrogryposis syndrome 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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