Distal arthrogryposis type 2A (Freeman-Sheldon syndrome) is also known as the “Whistling face syndrome”. It is characterized by microstomia with pinched lips, contractures, talipes, scoliosis, and/or dysmorphic features. Narrow airway might cause breathing problems, and patients may be at risk for malignant hyperthermia.
Distal arthrogryposis type 2B3 (Sheldon-Hall syndrome) presents with similar contractures than in Freeman-Sheldon syndrome, but with milder facial contractures. Severe scoliosis is also less common than in Freeman-Sheldon syndrome. Patients may be at risk for malignant hyperthermia.
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A) is also known as distal arthrogryposis type 8 (DA8). It is characterized by pterygia, camptodactyly of the hands, vertebral fusions, and scoliosis.
MYH3 autosomal dominant