Learn About Freeman-Sheldon Syndrome

What is the definition of Freeman-Sheldon Syndrome?

Freeman-Sheldon syndrome (also known as Freeman-Burian syndrome) is a condition that primarily affects muscles in the face and skull (craniofacial muscles) and can often affect joints in the hands and feet. The condition is characterized by abnormalities known as contractures, which result from permanent tightening of muscles, skin, tendons, and surrounding tissues, and restrict movement of the affected body part. In Freeman-Sheldon syndrome, contractures in the face lead to a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of whistling. For this reason, Freeman-Sheldon syndrome is sometimes called "whistling face syndrome." Other facial features common in this condition include a chin dimple shaped like an "H" or "V" and unusually deep folds in the skin between the nose and the corners of the mouth (nasolabial folds).

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What are the causes of Freeman-Sheldon Syndrome?

Freeman-Sheldon syndrome is caused by variants (also known as mutations) in the MYH3 gene. The MYH3 gene provides instructions for making a protein called myosin-3. Myosin and another protein called actin are the primary components of muscle fibers and are important for the tensing of muscles (muscle contraction). Myosin-3 is a part of muscle fibers in the fetus before birth, and the protein is important for normal development of the muscles.

How prevalent is Freeman-Sheldon Syndrome?

Freeman-Sheldon syndrome is a rare disorder. It is estimated to affect 200 to 300 individuals worldwide.

Is Freeman-Sheldon Syndrome an inherited disorder?

Freeman-Sheldon syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new variants in the gene and occur with no history of the disorder in the family. Some affected people inherit the variant from one affected parent. Very rarely, the parent has the gene variant only in some or all of their sperm or egg cells, which is known as germline mosaicism. In these cases, the parent has no signs or symptoms of the condition.

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What are the latest Freeman-Sheldon Syndrome Clinical Trials?
Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study

Summary: The purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between Freeman-Burian syndrome (formerly, Freeman-Sheldon or whistling face syndrome), Sheldon-Hall syndrome, and distal arthrogryposis types 3, and 1. The approximate cumulative tot...

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Who are the sources who wrote this article ?

Published Date: October 28, 2021Published By: National Institutes of Health

What are the Latest Advances for Freeman-Sheldon Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.