Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification

Abstract

The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-linked, but the responsible gene has not been identified, and those suspected from family history to be X-linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions.

Keywords: X-linked; arthrogryposis; arthrogryposis multiplex congenita; contractures; multiple congenital contractures; myopathy; spinal muscular atrophy.