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
References in periodicals archive ?
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
In the classification of Bamshad et al (3), FSS is named distal arthrogryposis type 2A with most of the features being secondary to increased muscle tone.