Sheldon-Hall syndrome

Disease Overview

Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is characterized by joint deformities (contractures) that restrict movement in the hands and feet. People with this condition may also have distinctive facial features, extra folds of skin on the neck, and short stature. Intelligence and life expectancy are not usually affected. Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene. It is inherited in an autosomal dominant pattern. In about 50% of cases, an affected person inherits the mutation from an affected parent. Other cases result from a new mutation in the gene and occur in people with no family history of the disorder.[10450] While there is no specific treatment for this condition, occupational and physical therapy, serial casting, and/or surgery may benefit those who are affected.[10451]   

Synonyms

• DA2B
• Arthrogryposis multiplex congenita distal type 2B
• Freeman Sheldon syndrome, variant
• Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities
• Distal arthrogryposis type 2B
• Freeman Sheldon variant
• Distal arthrogryposis type IIB
• Freeman-Sheldon syndrome variant