Yes, it is possible to live a normal life with Wiedemann-Steiner syndrome. While this condition can cause certain physical abnormalities, it does not typically affect a person’s overall health or lifespan. With proper medical care and support, people with Wiedemann-Steiner syndrome can lead fulfilling and productive lives.
How is Wiedemann Steiner syndrome diagnosed?
Wiedemann-Steiner syndrome is typically diagnosed based on a combination of physical signs and symptoms, medical history, and genetic testing. The condition is characterized by distinctive physical features, such as a large head, short stature, and abnormalities of the hands and fingers. A healthcare provider may also order genetic testing to confirm a diagnosis of Wiedemann-Steiner syndrome. This can involve analyzing a person’s DNA to look for mutations in the EZH2 gene, which is associated with this condition.