Freeman–Sheldon syndrome
Freeman–Sheldon syndrome (pronounced: free-man she-l-don sin-drome) is a rare congenital disorder characterized by multiple contractures at birth, abnormalities in the head and face (craniofacial) area, and defects in the hands and feet. It is also known as distal arthrogryposis type 2A or whistling face syndrome due to the characteristic facial appearance of affected individuals.
Etymology
The syndrome is named after two American physicians, Dr. Ernest A. Freeman and Dr. Joseph M. Sheldon, who first described the condition in 1938.
Symptoms
The most common symptoms of Freeman–Sheldon syndrome include:
- Microstomia (small mouth)
- Micrognathia (small jaw)
- Camptodactyly (permanently bent fingers or toes)
- Talipes equinovarus (clubfoot)
- Scoliosis (abnormal curvature of the spine)
Causes
Freeman–Sheldon syndrome is caused by mutations in the MYH3 gene. This gene provides instructions for making a protein that is involved in muscle contraction. The mutations lead to the production of an abnormal version of this protein, which disrupts the normal development of muscles and bones.
Diagnosis
Diagnosis of Freeman–Sheldon syndrome is based on a clinical examination of the physical features. Genetic testing can confirm the diagnosis.
Treatment
Treatment of Freeman–Sheldon syndrome is symptomatic and supportive. It may include physical therapy, surgery to correct contractures and other skeletal abnormalities, and speech therapy to improve facial muscle function.
See also
External links
- Medical encyclopedia article on Freeman–Sheldon syndrome
- Wikipedia's article - Freeman–Sheldon syndrome
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