distal arthrogryposis type 2B (Sheldon-Hall syndrome)

Epidemiology

• rare
• most common of the distal arthrogryposis syndromes

Genetics

• associated with defects in TNNI2, TNNT3 MYH3

Clinical manifestations

• vertical talus
• ulnar deviation in the hands
• severe camptodactyly
• distinctive face characterized by a triangular shape
  • prominent nasolabial folds
  • small mouth & a prominent chin
  • similar to distal arthrogryposis type 2A but the facial contractures are less dramatic

More general terms

• arthrogryposis multiplex congenita (distal arthrogryposis)

Database

• OMIM: https://mirror.omim.org/entry/601680