Condition

Pediatric Angelman Syndrome

What You Need to Know

Angelman syndrome is a rare genetic condition that affects how a child’s brain develops. It can cause delays in learning, speech and movement. It can also cause trouble with balance, sleep and seizures. With specialty care and supportive therapies, children with Angelman syndrome can learn, grow and reach their own unique strengths.

Key Symptoms

The most common symptoms of Angelman syndrome are:

Short stature
Severe intellectual disability
Seizures

Diagnosis

Doctors typically diagnose Angelman syndrome by:

Genetic tests

Treatment

There is no cure for Angelman syndrome

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Frequently Asked Questions

What is Angelman syndrome?

What are the symptoms of Angelman syndrome?

How is Angelman syndrome diagnosed?

The genetic test for Angelman syndrome is called Uniparental Disomy. This is a blood test used to see if your child has certain chromosome changes.

Normally, people have 23 pairs of chromosomes in their cells. In each pair, one chromosome comes from their father and one from their mother. These chromosomes contain genes.

Sometimes people will inherit 2 copies of a chromosome or a part of a chromosome from their mother or father, but none from their other parent. This is called uniparental disomy. In some cases, this causes health problems.

Two health conditions that are often linked to uniparental disomy are Prader-Willi syndrome and Angelman syndrome. This blood test can help find out if a child has uniparental disomy related to one of these syndromes.

Meet the Providers Who Treat Angelman Syndrome

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Departments that Treat Angelman Syndrome

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.