Freeman Sheldon Syndrome, also known as distal arthrogryposis type 2A, is a rare genetic disorder that affects multiple parts of the body. It is characterized by a combination of facial abnormalities, joint contractures, and muscle weakness.
Facial abnormalities: Individuals with Freeman Sheldon Syndrome often have a distinctive facial appearance, including a small mouth with pursed lips, a prominent forehead, a flat nasal bridge, and a small jaw.
Joint contractures: Joint contractures refer to the limited range of motion in certain joints. In Freeman Sheldon Syndrome, these contractures primarily affect the hands and feet, causing them to be fixed in a bent or flexed position.
Muscle weakness: People with this syndrome may experience muscle weakness, particularly in the face and limbs. This can lead to difficulties with swallowing, speaking, and performing fine motor tasks.
Freeman Sheldon Syndrome is caused by mutations in specific genes involved in muscle development. It is typically diagnosed based on clinical features and genetic testing. Treatment focuses on managing the symptoms and may include physical therapy, speech therapy, and surgical interventions to improve joint function.