Weismann–Netter–Stuhl syndrome

Weismann–Netter–Stuhl syndrome (WNS) is a rare genetic disorder characterized by bowing of the anterior part of the tibia and fibula, intellectual disability, and mild dysmorphism. It was first described by Weismann, Netter, and Stuhl in 1954.

Etiology

The exact cause of Weismann–Netter–Stuhl syndrome is unknown. However, it is believed to be a genetic disorder, possibly inherited in an autosomal recessive manner. This means that an individual must inherit two copies of an abnormal gene for the disease to develop.

Clinical Features

The primary clinical feature of Weismann–Netter–Stuhl syndrome is the bowing of the anterior part of the tibia and fibula. This can lead to difficulty walking and other mobility issues. Other features may include intellectual disability and mild dysmorphism, such as unusual facial features.

Diagnosis

Diagnosis of Weismann–Netter–Stuhl syndrome is typically based on the clinical features, particularly the characteristic bowing of the tibia and fibula. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation.

Treatment

There is currently no cure for Weismann–Netter–Stuhl syndrome. Treatment is symptomatic and supportive, and may include physical therapy to improve mobility and special education services for those with intellectual disability.

Prognosis

The prognosis for individuals with Weismann–Netter–Stuhl syndrome varies. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may experience significant disability.

See Also

• Genetic disorder
• Tibia
• Fibula
• Intellectual disability

NIH genetic and rare disease info

• NIH info on Weismann–Netter–Stuhl syndrome

Weismann–Netter–Stuhl syndrome is a rare disease.

Weismann–Netter–Stuhl syndrome Resources
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