This report describes general characteristics of the group of diseases classified as distal arthrogryposis (DA). Subtypes of this disorder are defined by severity and extent of disease phenotypes, in addition to causative gene; some genes are implicated in several subtypes. A comprehensive list of DA subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. Most subtypes are also listed in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
[updated Oct. 2020 by FlyBase; FBrf0222196]
The distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al. 2009; pubmed:19571066). [from MIM:108120; 2020.10.17]
Mutations in MYH3 explain approximately 90% of the cases of FSS (DA2A) and approximately 40% of the cases of SHS (DA2B), making MYH3 mutation the most common known cause of distal arthrogryposis (Bamshad et al. 2009; pubmed:19571066).
