Whistling Face

(redirected from Distal Arthrogryposis Type 2A)
An autosomal dominant [MIM 193700] or less commonly, or autosomal recessive [MIM 277720] condition with atypical mask-like facies—small ‘pursed’ lips, deep-set/sunken eyes, epicanthus, hypoplastic nasal alae, blepharophimosis,strabismus, patientosis—accompanied by failure to thrive, normal IQ, short stature, scoliosis, camptodactyly with ulnar deviation—‘windmill hands’—talipes equinovarus or clubfoot
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References in periodicals archive ?
First reported in 1938 by Freeman and Sheldon who initially called it craniocarpotarsal dystrophy [1], Freeman-Sheldon syndrome (FSS; OMIM #193700), also known as craniocarpal-tarsal dysplasia, windmill vane hand syndrome, distal arthrogryposis type 2A, and whistling-face syndrome, is a rare form of multiple congenital contracture syndrome.
Freeman-Sheldon syndrome, or distal arthrogryposis type 2A, is a rare congenital myopathy and dysplasia characterised by multiple contractures, abnormalities of the head and face, defective development of the hands and feet and skeletal malformations.
Key Words: Freeman-Sheldon syndrome, distal arthrogryposis type 2A, spinal surgery, anaesthesia