Freeman-Sheldon syndrome
Freeman-Sheldon syndrome
Definition
A very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.
Also known as arthrogryposis, distal, type 2A (Freeman-Sheldon), cranio-carpo-tarsal syndrome, Craniocarpotarsal dysplasia, Craniocarpotarsal dystrophy, distal arthrogryposis type 2A, Freeman Sheldon Syndrome, Freeman-Sheldon syndrome, whistling face syndrome, whistling face-windmill vane hand syndrome, whistling-face syndrome, windmill-vane-hand syndrome — per MONDO