Which are the symptoms of Weismann Netter Stuhl Syndrome?

Weismann Netter Stuhl Syndrome (WNSS), also known as dysplasia corticalis generalisata, is a rare genetic disorder that affects the bones and muscles of the body. It was first described by Weismann, Netter, and Stuhl in 1954. WNSS is characterized by various symptoms that primarily involve the skeletal system.

Bone abnormalities: Individuals with WNSS often exhibit cortical thickening and irregularities in the long bones of the arms and legs. This can lead to short stature and limb deformities. The bones may appear dense on X-rays, giving them a "marble-like" appearance. These skeletal abnormalities can cause difficulties in movement and may result in joint pain.

Muscle weakness: WNSS can also affect the muscles, leading to muscle weakness and decreased muscle tone. This can contribute to motor delays and difficulties in performing physical activities. Muscle weakness may be more pronounced in the lower limbs, affecting walking and mobility.

Joint contractures: Some individuals with WNSS may develop joint contractures, which are characterized by the limited range of motion in certain joints. Contractures can affect the knees, elbows, and other joints, making it challenging to fully extend or flex these areas. Physical therapy and stretching exercises may help manage joint contractures.

Facial features: Although less prominent, certain facial features may be associated with WNSS. These can include a prominent forehead, a flat nasal bridge, and a small chin. However, it's important to note that the severity and presence of these facial characteristics can vary among individuals.

Intellectual development: While WNSS primarily affects the skeletal system, some individuals may experience mild intellectual disabilities or learning difficulties. However, the majority of individuals with WNSS have normal intelligence and cognitive abilities.

Other possible features: In rare cases, additional symptoms may be present in individuals with WNSS. These can include hearing loss, dental abnormalities, and abnormalities in the structure of the spine.

It's important to note that the severity and specific symptoms of WNSS can vary widely among affected individuals. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience more significant challenges. Early diagnosis and appropriate management, including physical therapy and orthopedic interventions, can help improve quality of life for individuals with WNSS.