What’s Freeman-Sheldon Syndrome?

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Freeman-Sheldon syndrome affects hands, feet, and face with common facial features including pursed lips, a shorter nose, and a prominent forehead. Joint deformities limit mobility and can cause painful contractures. Patients may have an increased risk of complications when taking certain medications. Intelligence is usually not affected. Psychological therapy is recommended.

Freeman-Sheldon syndrome is a rare genetic condition that primarily affects the hands, feet, and face. Some of the more common facial features found in those with the condition include pursed lips, a shorter-than-average nose, and a prominent forehead. Joint deformities often limit movement of the hands and feet and can cause painful contractures to develop. Those with Freeman-Sheldon syndrome may have an increased risk of developing serious complications when taking certain medications, especially those used during surgical procedures. Any specific questions or concerns about Freeman-Sheldon syndrome should be discussed with a doctor or other medical professional.

There are a few distinct facial features that are common among those born with Freeman-Sheldon syndrome, although the extent of these deformities can vary greatly from one patient to another. The mouth is usually small and the lips are pursed in a position that appears as if the patient is attempting to whistle. The forehead is usually prominent and the midsection of the face may have a sunken appearance. Typically, the nose is smaller than average and the eyes may be set wider apart than usual.

Joint deformities known as contractures are often present in those diagnosed with Freeman-Sheldon syndrome. These contractures typically affect the hands and feet and can severely limit your mobility and ability to perform independent tasks. In severe cases, surgery may be used in an attempt to help the patient have greater range of motion.

Malignant hyperthermia is a type of severe reaction to certain medications and is common among those with Freeman-Sheldon syndrome. Medications that are frequently used during medical procedures and surgeries are more likely to trigger this complication, although some oral medications, such as muscle relaxants, can also cause problems. Some symptoms of malignant hyperthermia include fever, muscle stiffness, and rapid heart rate. Potentially life-threatening complications can develop if this condition is not treated right away.

Levels of intelligence or mental ability are not usually affected by Freeman-Sheldon syndrome, although a small percentage of patients may have some form of mental incapacity. Psychological therapy is often recommended for the patient as well as the parents so that the family can learn how to cope emotionally with some of the challenges presented by Freeman-Sheldon syndrome. The supervising physician will often solicit health care from various medical professionals in an effort to provide an extensive support system to families dealing with this disease.

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