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 http: //www.orphadata.org. Data version October 2023.
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Arthrogryposis-hyperkeratosis syndrome, lethal form?
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Advocacy Organizations
ZC4H2 Research Foundation
The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate for the ZARD community through: Research, Awareness, and Support.
ZC4H2 Research Foundation
The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate for the ZARD community through: Research, Awareness, and Support.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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