Angelman Syndrome: Its Distinctive Characteristics and Genetic Causes

What is Angelman Syndrome?

A Genetically Determined Disorder

Angelman syndrome is a genetic disorder primarily affecting the nervous system. It is caused by a change in a gene called UBE3A, located on chromosome 15.

Characteristic Symptoms

Unique Facial Features

Angelman syndrome is characterized by a distinctive facial appearance, often described as "puppet-like." This includes a small head, wide-set eyes, a protruding tongue, and a cheerful expression.

Active and Social Nature

Individuals with Angelman syndrome typically exhibit an active and social disposition. They are often highly affectionate and interactive, seeking out connections with others.

Other Symptoms

The range of symptoms associated with Angelman syndrome varies among individuals and can change over time. Some common symptoms include developmental delays, speech difficulties, seizures, sleep disturbances, and behavioral issues such as hyperactivity.