MYH3 mutations can cause distal arthrogryposis type 2A or type 2B (DA2A, DA2B). DA2A (Freeman-Sheldon syndrome) and DA2B (also known as Freeman-Sheldon syndrome variant, that can be caused also by mutations in TNNT3, TNNI2 or TPM2) are considered forms of distal arthrogryposis (DA) with additional features. Other forms of DA with additional features have been described, including distal arthrogryposis type 1B (DA1B), that can be caused by mutation in the MYBPC1 gene; DA7 (also known as trismus-pseudocamptodactyly syndrome, MYH8 gene); DA9 (also known as congenital contractural arachnodactyly, caused by FBN2 mutations) and other forms for which the gene has not been identified yet: DA3 (also known as Gordon syndrome), DA4, DA5, DA6 and DA8. Also, autosomal recessive inheritance has been hypothesized for some cases of arthrogryposis (whistling face syndrome, autosomal recessive).
For additional information see the relevant query in the OMIM database.
