Freeman-sheldon syndrome

Freeman-Sheldon Syndrome

Freeman-Sheldon Syndrome (FSS), also known as Whistling Face Syndrome, is a rare genetic disorder characterized by distinctive craniofacial, musculoskeletal, and other systemic abnormalities. It is named after the American pediatrician and geneticist, Dr. Ernest Freeman, and the orthopedic surgeon, Dr. Joseph Sheldon, who first described the condition in 1938.

Clinical Features

Freeman-Sheldon Syndrome is primarily characterized by:

• Craniofacial Abnormalities: Individuals with FSS often have a small mouth (microstomia), a "whistling" appearance of the lips, a prominent forehead, and a small chin (micrognathia). The nasal bridge may be flat, and the eyes may appear widely spaced (hypertelorism).

• Musculoskeletal Abnormalities: These include joint contractures, particularly affecting the hands and feet. The fingers may be permanently bent (camptodactyly), and clubfoot (talipes equinovarus) is common. Scoliosis, or curvature of the spine, may also be present.

• Other Features: Some individuals may experience hearing loss, speech difficulties, and respiratory problems due to the structural abnormalities of the face and airway.

Genetics

Freeman-Sheldon Syndrome is typically inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is often caused by mutations in the MYH3 gene, which provides instructions for making a protein involved in muscle contraction.

Diagnosis

Diagnosis of Freeman-Sheldon Syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the MYH3 gene. Prenatal diagnosis may be possible through ultrasound and genetic testing if there is a known family history.

Management

Management of Freeman-Sheldon Syndrome is symptomatic and supportive. It may involve:

• Surgical Interventions: To correct joint contractures, clubfoot, and craniofacial abnormalities.
• Physical Therapy: To improve mobility and prevent further contractures.
• Speech Therapy: To address speech difficulties.
• Respiratory Support: In cases where breathing difficulties are present.

Prognosis

The prognosis for individuals with Freeman-Sheldon Syndrome varies depending on the severity of symptoms and the presence of associated complications. With appropriate medical care and interventions, many individuals can lead relatively normal lives.

Epidemiology

Freeman-Sheldon Syndrome is a rare condition, with an estimated prevalence of less than 1 in 1,000,000 individuals worldwide. It affects both males and females equally.

Also see

• Arthrogryposis
• Craniofacial abnormalities
• Genetic disorders
• Musculoskeletal disorders