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What Is Freeman-Sheldon Syndrome?

Freeman-Sheldon Syndrome, also known as "whistling face syndrome," is a rare genetic disorder characterized by distinctive facial features and joint deformities. It often presents challenges in muscle and skeletal development from birth. Understanding this condition can empower those affected and their families. How does it impact daily life, and what treatments are available? Join us as we uncover the realities of living with Freeman-Sheldon Syndrome.
Meshell Powell
Meshell Powell

Freeman-Sheldon syndrome is a rare genetic condition that mostly affects the hands, feet, and face. Some of the most common facial features present in those with this condition include pursed lips, a shorter than average nose, and a prominent forehead. Joint deformities often limit movement involving the hands and the feet and may cause painful contractures to develop. Those with Freeman-Sheldon syndrome may have an increased risk of developing severe 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 some distinct facial features that are common among those born with Freeman-Sheldon syndrome, although the extent of these deformities may vary greatly from one patient to another. The mouth is usually small, and the lips are pursed into a position that looks like the patient is attempting to whistle. The forehead is generally prominent, and the middle of the face may have a sunken appearance. Typically, the nose is smaller than average, and the eyes may be spaced farther apart than usual.

Someone with Freeman-Sheldon syndrome may have pursed lips, as if they are attempting to whistle.
Someone with Freeman-Sheldon syndrome may have pursed lips, as if they are attempting to whistle.

Joint deformities known as contractures are frequently present in those who are diagnosed with Freeman-Sheldon syndrome. These contractures typically affect the hands and the feet and may severely limit mobility and the ability to perform independent tasks. In severe cases, surgical intervention may be used in an effort to help the patient have greater movement abilities.

Drugs that are used during surgical operations are most likely to trigger malignant hyperthermia, a reaction that is common among those with Freeman-Sheldon syndrome.
Drugs that are used during surgical operations are most likely to trigger malignant hyperthermia, a reaction that is common among those with Freeman-Sheldon syndrome.

Malignant hyperthermia is a type of severe reaction to certain drugs and is common among those with Freeman-Sheldon syndrome. Drugs that are frequently used during medical procedures and surgical operations are the most likely to trigger this complication, although some oral medications, such as muscle relaxants, may cause problems as well. Some symptoms of malignant hyperthermia include fever, muscle rigidity, and rapid heartbeat. Potentially life-threatening complications may develop if this condition is not treated right away.

Symptoms of malignant hyperthermia, common among those with Freeman-Sheldon syndrome, include fever.
Symptoms of malignant hyperthermia, common among those with Freeman-Sheldon syndrome, include fever.

Intelligence levels or mental capacity 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 emotionally cope with some of the challenges presented by Freeman-Sheldon syndrome. The supervising physician will often solicit the health of various medical professionals in an effort to provide a wide system of support for families dealing with this disease.

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    • Someone with Freeman-Sheldon syndrome may have pursed lips, as if they are attempting to whistle.
      By: fuchsphotography
      Someone with Freeman-Sheldon syndrome may have pursed lips, as if they are attempting to whistle.
    • Drugs that are used during surgical operations are most likely to trigger malignant hyperthermia, a reaction that is common among those with Freeman-Sheldon syndrome.
      By: Monkey Business
      Drugs that are used during surgical operations are most likely to trigger malignant hyperthermia, a reaction that is common among those with Freeman-Sheldon syndrome.
    • Symptoms of malignant hyperthermia, common among those with Freeman-Sheldon syndrome, include fever.
      By: cunaplus
      Symptoms of malignant hyperthermia, common among those with Freeman-Sheldon syndrome, include fever.