Freeman – Sheldon syndrome

Freeman–Sheldon syndrome is a rare genetically determined congenital disorder that primarily affects the muscular and skeletal systems, particularly in the face, hands, and feet. Individuals with this syndrome have a characteristic appearance, with small, pursed lips resembling a whistling expression. Therefore, the syndrome is sometimes informally referred to as “whistling face syndrome.” Only several dozen cases have been reported worldwide.

Causes

The cause of the disorder is genetic mutations. Several genes have been identified that may lead to the development of this syndrome. The mode of inheritance is autosomal dominant, meaning that only one mutated gene inherited from one parent is sufficient for the disease to manifest.

Diagnosis

Suspicion may arise based on clinical features. Genetic testing also plays a role in the diagnosis, aiming to identify the affected genes, although these may not always be detected.

Treatment

There is no prevention, and the syndrome itself cannot be cured. Treatment is symptomatic, focusing on individual manifestations. Limb deformities usually require multiple surgical and orthopedic procedures. Restricted mouth opening can be improved with plastic surgery, and rehabilitation therapy is important to support walking and mobility.

• facial abnormalities – small mouth (as if whistling), flat face, drooping upper eyelids, elongated space between the nose and upper lip (long philtrum), prominent forehead, hypertelorism (widely spaced eyes), short nose, deep‑set eyes, small tongue, small mandible, high‑arched palate
• hearing impairment
• feeding difficulties due to severe reflux in infancy, resulting in failure to thrive and growth delay
• speech impairment
• scoliosis (S‑shaped curvature of the spine)
• muscle contractures of the limbs, including the fingers, significantly limiting mobility and causing limping
• shortened Achilles tendons, leading to clubfoot (pes equinovarus)
• increased risk of malignant hyperthermia (an abnormal reaction to certain anesthetics during general anesthesia)
• approximately one third of individuals have some degree of intellectual impairment