Whistling Face Syndrome, also known as Freeman-Sheldon syndrome (FSS), is a rare genetic disorder. This condition primarily affects the development of muscles in the face and skull, but it also frequently involves problems with the joints in the hands and feet.
Key Characteristics
Individuals with Whistling Face Syndrome exhibit a distinctive facial appearance, which gives the condition its common name. They have a very small mouth, microstomia, with pursed lips that resemble someone attempting to whistle. The face may appear flatter than usual, with deeply set eyes and a small nose due to decreased cartilage.
Beyond facial features, the syndrome causes contractures, which are permanent tightening of muscles, skin, and surrounding tissues, restricting movement. These contractures affect the joints, leading to conditions like clubfeet or bent fingers and wrists. Curvature of the spine, known as scoliosis, and other skeletal abnormalities can also be present, impacting mobility and overall physical development.
Genetic Origins
Whistling Face Syndrome is a genetic condition resulting from changes in an individual’s DNA. Mutations in the MYH3 gene are a primary cause of this syndrome. The MYH3 gene provides instructions for creating a protein involved in muscle development and contraction.
These genetic changes disrupt the proper formation and function of muscle fibers, particularly during fetal development. While the condition can be inherited, often in an autosomal dominant pattern where only one copy of the altered gene is needed, many cases occur spontaneously without a family history.
Diagnosis and Management
Diagnosing Whistling Face Syndrome involves a clinical assessment of characteristic physical features observed at birth. A small mouth with pursed lips, prominent nasolabial creases, and an “H” or “V” shaped chin dimple are key indicators. Genetic testing for MYH3 gene mutations can confirm the diagnosis.
Managing the syndrome involves a multidisciplinary approach focused on alleviating symptoms and improving quality of life. Physical therapy and occupational therapy are used to address joint contractures, enhance mobility, and improve overall function. Surgical interventions may be necessary to correct severe contractures, spinal curvature, or other skeletal issues. Speech therapy can assist with communication and feeding difficulties that may arise from facial features. Nutritional support is also important if feeding challenges are present in infancy.