Which are the symptoms of Freeman Sheldon Syndrome?

Symptoms of Freeman Sheldon Syndrome

Freeman Sheldon Syndrome, also known as distal arthrogryposis type 2A, is a rare genetic disorder that primarily affects the muscles and bones. It is characterized by a distinct set of physical features and functional impairments. Individuals with Freeman Sheldon Syndrome may exhibit a range of symptoms, which can vary in severity from person to person.

Facial Features

One of the most prominent characteristics of Freeman Sheldon Syndrome is the presence of distinctive facial features. These features may include a small mouth with a puckered appearance, a thin upper lip, a short nose with a flattened bridge, and deep-set eyes. The facial muscles may be underdeveloped, leading to difficulties in facial expressions and limited mobility of the mouth.

Contractures

Contractures are a common feature of Freeman Sheldon Syndrome. Contractures refer to the permanent tightening or shortening of muscles, tendons, or other tissues, leading to restricted joint movement. In this syndrome, contractures typically affect the hands, feet, fingers, and toes. The fingers may be permanently flexed or curved, making it challenging to perform fine motor tasks such as grasping objects or writing. Similarly, the feet may be affected, leading to difficulties in walking and maintaining balance.

Joint Abnormalities

Individuals with Freeman Sheldon Syndrome may have various joint abnormalities. These abnormalities can include arthrogryposis multiplex congenita, a condition characterized by multiple joint contractures present at birth. Joint stiffness, limited range of motion, and joint dislocations are also commonly observed in this syndrome.

Oral and Dental Issues

Oral and dental problems are frequently seen in individuals with Freeman Sheldon Syndrome. The small mouth and limited mobility of the facial muscles can lead to difficulties in oral hygiene maintenance, speech articulation, and swallowing. Dental abnormalities such as crowded teeth, malocclusion, and missing teeth may also be present.

Respiratory Complications

In some cases, Freeman Sheldon Syndrome can lead to respiratory complications. The underdeveloped facial muscles and small mouth may contribute to difficulties in breathing, particularly during infancy. This can result in respiratory infections, sleep apnea, and other respiratory issues.

Growth and Developmental Delays

Children with Freeman Sheldon Syndrome may experience growth and developmental delays. These delays can affect both physical and cognitive development. Motor milestones such as sitting, crawling, and walking may be achieved later than expected. Additionally, speech and language delays, learning disabilities, and intellectual impairment may be present in some individuals.

Other Possible Features

While less common, Freeman Sheldon Syndrome can also be associated with other features such as scoliosis (abnormal curvature of the spine), hearing loss, heart defects, and genitourinary abnormalities.

It is important to note that the severity and combination of symptoms can vary widely among individuals with Freeman Sheldon Syndrome. Therefore, each person may experience a unique set of challenges and require personalized medical care and support.