Distal arthrogryposis (DA) syndromes are a group of multiple congenital contracture disorders with distal joint involvement, variable clinical expression, and autosomal dominant inheritance. Distal arthrogryposis 2A, or Freeman-Sheldon syndrome (FSS), is the most severe DA syndrome. Patients with FSS have, in addition to distal joint contractures, facial findings secondary to contractures of facial muscles. A small mouth with a whistling-like appearance is a universal finding. The eyes are often deep-set and the nasal bridge wide. Other findings include epicanthal folds, strabismus, bilateral ptosis and reduced eyelid size. FSS patients also often have H-shaped dimpling of the chin, small nose, long philtrum, high palate, small tongue, and nasal speech. Skeletal finding include ulnar deviation of the hands, camptodactyly, kyphoscoliosis, clubfoot, and contractures of the knees or hips. Distal arthrogryposis 2B , or Sheldon-Hall syndrome (SHS) is the most common DA syndrome. Clinically, SHS is less severe than FSS, but more severe than TPM2-related DA (DA1). Facial features reminiscent of FSS are present, but are less pronounced. Arthrogryposis panel screens TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, and FBN2 genes.
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