DISEASES

Disease-gene associations mined from literature

Human genes for distal arthrogryposis

Distal arthrogryposis [DOID:0050646]

Freeman-Sheldon syndrome (FSS), also termed distal arthrogryposis type 2A (DA2A), craniocarpotarsal dysplasia (or dystrophy), Cranio-carpo-tarsal syndrome, Windmill-Vane-Hand syndrome, or Whistling-face syndrome, was originally described by Freeman and Sheldon in 1938.:577 Freeman-Sheldon syndrome is a rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis (DA).

Synonyms:  distal arthrogryposis,  DOID:0050646,  Arthrogryposis Multiplex Congenita,  SHELDON-HALL SYNDROME,  SHELDONHALL SYNDROME ...