Definition An inherited condition (OMIM:601680) characterised by multiple congenital contractures, vertical talus, ulnar deviation of hands, severe camptodactyly, and distinctive facies–triangular shape, prominent nasolabial folds, small mouth and prominent chin.
• MYH3, which encodes a heavy chain of myosin and is involved in cytokinesis, cell shape, and specialised functions…
• TNNI2, which encodes troponin I type 2, a protein expressed in muscle and cartilage…
• TNNT3, which encodes type 3 troponin T, the tropomyosin-binding subunit of troponin…
• TPM2, which encodes beta-tropomyosin, an actin filament binding protein primarily expressed in slow, type 1 muscle fibers
All cause arthrogryposis—distal—2B.
Synonyms Arthrogryposis multiplex congenita—distal—2B, Freeman-Sheldon syndrome variant, Sheldon-Hall syndrome