Angelmanin

Angelman syndrome is a rare genetic disorder characterized by intellectual disability, developmental delays, and distinctive physical features. It is caused by mutations in the UBE3A gene, which is located on chromosome 15. The syndrome is named after Harry Angelman, who was the first person to describe the condition in 1965.

There are two main types of Angelman syndrome: classic Angelman syndrome and Angelman syndrome-like type 2. Classic Angelman syndrome is typically caused by a deletion or mutation in the UBE3A gene on the maternal chromosome 15. In contrast, Angelman syndrome-like type 2 is caused by a deletion or mutation in the UBE3A gene on the paternal chromosome 15.

The symptoms of Angelman syndrome include intellectual disability, developmental delays, seizures, and distinctive physical features such as a happy demeanor, a small jaw, and a small chin. Individuals with Angelman syndrome may also have sleep disturbances, behavioral issues, and a tendency to wander.

There is currently no cure for Angelman syndrome, but there are treatments available to manage symptoms and improve quality of life. Early intervention and support services can help individuals with Angelman syndrome reach their full potential. Research is ongoing to better understand the underlying mechanisms of the disorder and to develop new treatments.