Professionals

MYH3-associated autosomal dominant syndromes
•    Distal arthrogryposis type 2A (Freeman-Sheldon syndrome)
•    Distal arthrogryposis type 2B3 (Sheldon-Hall syndrome)
•    Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A)

Main clinical features:
Clinical features include arthrogryposis, contractures, multiple pterygia, webbed neck, vertebral anomalies, scoliosis, carpal fusion, tarsal fusion, cleft palate, camptodactyly, craniofacial abnormalities, and/or dysmorphic features.

Prevalence:
Prevalence is unknown, but all of these MYH3-associated phenotypes have been estimated to be very rare.