Breaking News: Rare Syndrome Freeman-Sheldon Identified

Freeman-Sheldon Syndrome Identified

Freeman-Sheldon syndrome is extremely rare, mostly autosomal, congenital condition.

Freeman-Sheldon syndrome (FSS) is also known as Freeman-Burian syndrome. This congenital condition primarily affects the face, hands, and feet. It is a very rare form of multiple congenital contracture (MCC) syndromes and is the most severe type of arthrogryposis, a condition in which joints are permanently contracted or stiff. The syndrome is characterized by a distinctive facial appearance, including a small jaw, a short nose, and a thin upper lip. Individuals with FSS may also have limited movement in their hands and feet due to joint contractures. The condition is caused by mutations in the CHRNG gene, which encodes a protein that is involved in the development of the nervous system and muscles.

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