How common is Freeman Sheldon Syndrome?

How common is Freeman Sheldon Syndrome?

Freeman-Sheldon syndrome is one of a group of disorders that are associated with multiple congenital contractures (MCCs). MCCs occur in approximately 1 in 3,000 children.

Is having a small mouth genetic?

The Experts: Microstomia is defined as the congenital or acquired con- dition of an abnormally small mouth. Common causes of acquired microstomia are facial burns and progressive skin disorders such as scleroderma. Congenital causes in- clude many syndromes that can have a genetic inheritance or sporadic genesis.

What is Sheldon Hall syndrome?

Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is characterized by joint deformities (contractures) that restrict movement in the hands and feet. People with this condition may also have distinctive facial features, extra folds of skin on the neck, and short stature.

What does arthrogryposis mean?

Arthrogryposis, also called arthrogryposis multiplex congenita (AMC), is a term used to describe a variety of conditions involving multiple joint contractures (or stiffness). A contracture is a condition where the range of motion of a joint is limited. It may be unable to fully or partially extend or bend.

How many children are affected by Freeman Sheldon syndrome?

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.

Can a mutation in MYH3 cause Freeman Sheldon syndrome?

There is an increased risk for individuals with this disorder to develop a severe reaction to certain drugs used during surgery (malignant hyperthermia). Freeman Sheldon syndrome can be caused by mutations in the MYH3 gene; however, not all individuals have a mutation within this gene.

Why do people with Freeman Sheldon syndrome whistle?

Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling. These features include an extremely small puckered mouth (microstomia); a “full” forehead appearance, unusually prominent cheeks; and thin, pursed lips.

What are the mutations in Freeman Sheldon syndrome?

Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is unknown. Freeman-Sheldon syndrome may be caused by mutations in the MYH3 gene. The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3.

What’s the life expectancy of someone with Freeman Sheldon syndrome?

Otherwise, life expectancy for those with FSS is measured to be normal when general health maintenance is followed. Life span and intelligence with FSS are normal. But swallowing difficulties as well as vomiting can lead to failure to thrive during infancy and in some cases retarded growth can occur.

What do eyes look like with Freeman Sheldon syndrome?

These may include widely spaced eyes ( hypertelorism ), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening ( blepharophimosis ), droopy eyelids (ptosis), and eyes that do not look in the same direction (strabismus).

What makes a person have Sheldon Hall syndrome?

People with this condition may also have distinctive facial features, extra folds of skin on the neck, and short stature. Intelligence and life expectancy are not usually affected. Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene.