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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
NIH genetic and rare disease info[edit source]
Weismann–Netter–Stuhl syndrome is a rare disease.
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