Children with Angelman syndrome (AS) have an unusual facial appearance, short stature, severe intellectual disability with a lack of speech, stiff arm movements, and a spastic, uncoordinated walk. They may have seizures and often have inappropriate outbursts of laughter.
Angelman syndrome can result when a baby inherits both copies of a section of chromosome #15 from the father (rather than one from the mother and one from the father). AS can also occur, even when chromosome #15 is inherited normally: one chromosome coming from each parent. If that section of the mother's chromosome #15 is deleted, only the father's section will be present, allowing AS symptoms to occur. This deletion of a section of the maternally inherited chromosome is the most common cause of Angelman syndrome.
Departments that Treat Angelman Syndrome
Cancer Genetics Program
Our cancer genetics experts help answer important questions about your child�s inherited risk for cancer.
Children�s National Hospital provides advanced comprehensive care for children and families affected by neurogenetic conditions.
Rare Disease Institute - Genetics and Metabolism
Children's National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.