What causes whistling face syndrome?
Limited muscle and limb movement during development likely result in stiffening of the muscles and surrounding tissues, causing the contractures that lead to the characteristic “whistling face” appearance and hand, foot, and spine deformities.
What is Freeman Sheldon Syndrome?
Freeman-Sheldon syndrome (FSS) or “whistling face syndrome” is an exceptionally rare disorder present before birth (congenital) that primarily affects muscles of the face and skull (craniofacial muscles) but frequently involves problems with joints of the hands and feet.
What causes Freeman Sheldon Syndrome?
Freeman-Sheldon syndrome is a genetic condition, caused by a mutation (change) on a specific gene. Research has identified the affected gene as the MYH3 gene, which is responsible for the movement of substances between cells during development.
How is Freeman Sheldon Syndrome diagnosed?
Freeman Sheldon syndrome (FSS) is diagnosed based on the symptoms and clinical exam. Symptoms important for diagnosis include the characteristic facial features (small mouth, deep nasolabial folds, V-shaped chin dimple) and the presence of joint abnormalities.
What is Sotos?
Definition. Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life.
What causes a flat face?
The underdeveloped eye sockets, cheekbones, and lower jaw cause the face to appear flat. Furthermore, the minor downward slant of the eyes along with the drooping eyelids (ptosis) adds to the overall unevenness of the face.
What do people with Freeman Sheldon syndrome look like?
Freeman Sheldon syndrome is a disorder present from birth (congenital) characterized by joint deformities (contractures) that restrict movement in the hands and feet and abnormalities of the head and face. People with this syndrome have a small mouth (microstomia) with pursed lips, giving the appearance of a “whistling face.”.
Can you get malignant hyperthermia with Freeman Sheldon syndrome?
Additionally, some types of anesthesia administered to people with Freeman-Sheldon syndrome may trigger malignant hyperthermia which can be an acute life threatening condition. It is therefore important for surgeons and dentists to be aware that certain types of anesthesia should be avoided in individuals with Freeman-Sheldon syndrome.
Are there mutations in the MYH3 gene in Freeman Sheldon syndrome?
Some people with Freeman-Sheldon syndrome do not have mutations in the MYH3 gene. In these individuals, the cause of the disorder is unknown. Freeman-Sheldon syndrome can have different inheritance patterns.