Freeman Sheldon Syndrome
Freeman Sheldon Syndrome, or Whistling Face Syndrome is a rare genetic disorder resulting in a small “whistling” mouth, a flat mask-like face, clubfeet, joint contractures, and muscle weakness.
The syndrome is related to Arthrogryposis and Clubfoot. Affected individuals have joint contractures that restrict movement and function. These contractures lead to deformities of the hand, foot, and digits (fingers and toes).
Freeman Sheldon Syndrome is a rare disorder caused by mutation in the MYH3 gene, which codes for a skeletal muscle myosin protein. Myosin proteins are involved with the transport of materials inside and out of cells, as well as cell movement. Myosin, along with actin, are the components that make up muscle fibers. Mutations in the MYH3 gene interfere with normal muscle contraction during fetal development. This results in the muscle contractures and skeletal abnormalities that manifest in the syndrome.
Treatment for Freeman Sheldon Syndrome is usually focused on treating the recurrent hand or residual clubfoot deformities. Dr. Paley has extensive experience in this rare condition.
The hand deformity is usually ulnar drift and flexion deformities of the fingers. Ulnar drift is a deformity in which the wrist and fingers gradually shift toward the ulna. Dr. Paley may perform reconstructive surgery to correct the hand deformity.
The residual clubfoot deformities require specialized foot osteotomies and the use of a circular external fixator (i.e. the Taylor spatial frame) for gradual correction of the foot deformities.