Definition

Freeman-Sheldon Syndrome: A Rare Genetic Disorder

Definition

Freeman-Sheldon syndrome (FSS), also known as whistling face syndrome, is a rare genetic disorder characterized by multiple congenital contractures, or joint stiffnesses.

Inheritance and Causes

Most cases of FSS occur randomly (sporadically), but in rare instances, it can be inherited in an autosomal dominant manner. The genetic cause of FSS is typically a mutation in the MYH3 gene, which encodes a protein involved in muscle development.

FSS is phenotypically similar to distal arthrogryposis type 1 (DA1), but it also involves contractures of the hands.