Freeman–Sheldon syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Freeman–Sheldon syndrome
Synonyms	Whistling face syndrome, cranio-carpo-tarsal dystrophy
Pronounce
Specialty	Medical genetics
Symptoms	Microstomia, camptodactyly, scoliosis, clubfoot
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Clinical diagnosis, genetic testing
Differential diagnosis	Arthrogryposis, Moebius syndrome
Prevention
Treatment	Physical therapy, surgical intervention
Medication
Prognosis	Variable
Frequency	Rare
Deaths

Freeman–Sheldon syndrome (FSS), also known as whistling face syndrome, is a rare congenital disorder characterized by multiple physical abnormalities. It is named after the American pediatrician Ernest Arthur Freeman and the British orthopedic surgeon Joseph Harold Sheldon, who first described the syndrome in 1938.

Clinical Features

Individuals with Freeman–Sheldon syndrome typically present with distinctive facial features, including a small mouth (microstomia), pursed lips, deep-set eyes, and a prominent forehead. These facial characteristics often give the appearance of a "whistling face." Other common features include:

• Micrognathia (small jaw)
• Strabismus (crossed eyes)
• Scoliosis (curvature of the spine)
• Camptodactyly (permanently bent fingers)
• Clubfoot (talipes equinovarus)
• Joint contractures

Genetics

Freeman–Sheldon syndrome is usually inherited in an autosomal dominant manner, although cases of autosomal recessive inheritance have also been reported. The condition is associated with mutations in the MYH3 gene, which encodes a protein involved in muscle contraction.

Diagnosis

Diagnosis of Freeman–Sheldon syndrome is primarily based on clinical evaluation and the presence of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the MYH3 gene.

Management

There is no cure for Freeman–Sheldon syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include:

• Physical therapy to improve joint mobility
• Orthopedic surgery to correct skeletal abnormalities
• Speech therapy to address speech difficulties
• Ophthalmologic care for eye abnormalities

Prognosis

The prognosis for individuals with Freeman–Sheldon syndrome varies depending on the severity of the condition and the presence of associated complications. With appropriate medical care and supportive therapies, many individuals can lead relatively normal lives.

See also

• Congenital disorder
• Genetic disorder
• Orthopedic surgery
• Physical therapy
• Speech therapy

External Links

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