Freeman-Sheldon syndrome, also known as craniocarpotarsal dysplasia or whistling face syndrome, is a hereditary disorder with autosomal dominant transmission. The disorder manifests at birth and is characterized with a masklike “whistling” face, hypoplastic alae nasi, ulnar deviation of the hands, flexion contractures of the fingers, and clubfeet.
Freeman-Sheldon syndrome is an uncommon congenital disorder characterized by specific features, including sunken eyes, underdeveloped cartilage of the nose, pursed lips, various skeletal abnormalities, and muscle weakness. However, intelligence and life expectancy remain unaffected. This syndrome is typically inherited as an autosomal dominant genetic trait. Children affected by this condition may require corrective surgeries to address facial, hand, or foot deformities and improve their overall appearance and function.