This website provides information on patients with mutations in the MYH3 gene, specifically the syndrome caused by an autosomal recessive mutation, including clinical data, molecular data, management and research options.
Disorders caused by mutations in the MYH3 gene include the following:
• Distal arthrogryposis type 2A (Freeman-Sheldon syndrome)
• Distal arthrogryposis type 2B3 (Sheldon-Hall syndrome)
• Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A)
• Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B)
These syndromes are characterized by arthrogryposis, contractures, multiple pterygia, webbed neck, vertebral anomalies, scoliosis, carpal fusion, tarsal fusion, cleft palate, camptodactyly, craniofacial abnormalities, and/or dysmorphic features. Not all individuals with a mutation in the MYH3 gene have all of these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the MYH3 gene.
Anna Hakonen, MD, PhD, Helsinki University Hospital (HUS) and University of Turku, Helsinki, Finland, email@example.com