Freeman-Sheldon Syndrome

Freeman-Sheldon syndrome

[frē′mən shel′dən]

Etymology: Ernest Arthur Freeman, British orthopedic surgeon, 1900-1975; Joseph Harold Sheldon, British physician, 1920-1964

a congenital anomaly, transmitted as an autosomal-dominant trait, consisting of characteristic flattened, masklike facies; small mouth, the lips protruding as in whistling; deep-set eyes with hypertelorism; camptodactyly with ulnar drift of the fingers; and clubfoot. Also called craniocarpotarsal dystrophy, whistling face syndrome, whistling face-windmill vane hand syndrome.

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Whistling Face

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