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Melbourne boy has life-saving surgery to stop his spine crushing him

Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a ‘whistling face.’ 

For this reason, the condition is sometimes called ‘whistling face syndrome.’

People with Freeman-Sheldon syndrome may also have a prominent forehead and brow ridges, a sunken appearance of the middle of the face (midface hypoplasia), a short nose, a long area between the nose and mouth (philtrum), deep folds in the skin between the nose and lips (nasolabial folds), full cheeks, and a chin dimple shaped like an ‘H’ or ‘V’.

Freeman-Sheldon syndrome is also characterized by joint deformities (contractures) that restrict movement. People with this disorder typically have multiple contractures in the hands and feet at birth (distal arthrogryposis). 

These contractures lead to permanently bent fingers and toes (camptodactyly), a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation, also called ‘windmill vane hand’), and inward- and downward-turning feet (clubfoot). 

Affected individuals may also have a spine that curves to the side (scoliosis).

Source: US National Library of Medicine