Wiedemann syndrome

Wiedemann Syndrome is a rare genetic disorder characterized by a range of physical and developmental abnormalities. It is also known as Wiedemann-Steiner Syndrome (WSS), named after the scientists who first described the condition.

Overview

Wiedemann Syndrome is caused by mutations in the KMT2A gene, which provides instructions for producing a protein that plays a crucial role in the development of many parts of the body. This protein is involved in the regulation of gene expression, the process by which genes are turned on or off in cells.

Symptoms

The symptoms of Wiedemann Syndrome can vary widely among affected individuals. Common symptoms include intellectual disability, delayed development, distinctive facial features, and skeletal abnormalities. Other symptoms may include short stature, hypertrichosis (excessive hair growth), and heart defects.

Diagnosis

Diagnosis of Wiedemann Syndrome is based on clinical features and confirmed by genetic testing. The testing involves sequencing the KMT2A gene to identify any mutations.

Treatment

There is currently no cure for Wiedemann Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage symptoms.

Epidemiology

Wiedemann Syndrome is extremely rare, with fewer than 100 cases reported in the medical literature. It affects both males and females equally, and has been identified in individuals of various ethnic backgrounds.

Research

Research into Wiedemann Syndrome is ongoing, with scientists working to better understand the genetic changes that cause the disorder and to develop new treatments.

See Also

• Genetic Disorders
• Gene Expression
• KMT2A
• Hypertrichosis

NIH genetic and rare disease info

• NIH info on Wiedemann syndrome

Wiedemann syndrome is a rare disease.

Wiedemann syndrome Resources
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