What is Angelman syndrome?

What is International Angelman Day?

What is Angelman Syndrome?


South Africa

Angelman syndrome

(AS) is a rare neurogenetic disorder that affects chromosome 15, resulting in intellectual and developmental delay. It affects about 1 in 15,000 people worldwide.

People with Angelman syndrome have developmental problems that become noticeable by the age of 6 – 12 months. Common signs and symptoms usually appear in early childhood but despite these symptoms, people with Angelman syndrome have an overall happy and excitable demeanor.

Key challenges

  • Mobility & gait impairment

  • Learning disabilities

  • Seizure disorder

  • Nonverbal communication

  • Inclusion

  • Sleep disturbances

  • Anxiety & Behaviors

  • Feeding & gut issues

  • Vision

You are not alone.

Organizations worldwide offer support for families impacted by Angelman syndrome (AS) and offer community. Find your local AS organization to find educational materials and resources on various topics including education, communication, family support, transition to adulthood, mental health services and much more.

There is hope.

The global collective of Angelman syndrome organizations is working tirelessly to bring practical treatments to Angelman syndrome as quickly as possible. Laboratories across the world are studying the causation of the disease, which has been narrowed down to the loss of function of a single gene called UBE3A. The monogenic nature of Angelman syndrome gives us great hope that current human clinical trials and future studies will lead to transformative improvement in the lives of those living with Angelman syndrome.

About Angelman syndrome (EN)

(FR) Translation

Angelman research (EN)

(FR) Translation

Interested in translating into your language? Email: anthony.moisan@fastfrance.org

Angelman syndrome research

Research is key to understanding the characteristics of Angelman syndrome and improving the lives of individuals with Angelman syndrome. Advances in scientific knowledge of Angelman syndrome lead to ground-breaking symptomatic treatment and therapeutic advancements. Promising scientific advances are currently in clinical trials and advancing through the clinical development pipeline.

International (private) discussion group on FB:
Angelman Research & Trials

Angelman Syndrome Standard of Care

The Standards of Care for Angelman Syndrome was published in 2022. This collaborative project documents common issues that accompany Angelman syndrome and the most common and established ways of providing care for the issues.

Global Angelman syndrome registry

The Angelman Registry is a tool to help medical professionals and researchers learn more about individuals with Angelman syndrome (AS). The Registry will create new opportunities to gain insight and understanding about AS, providing an important tool for both facilitating research and enabling clinical trial sponsors to quickly identify suitable patients for each study.

The Registry is a global initiative that will collect data on individuals with AS through a series of online surveys in order to build the largest and most comprehensive global collection of information on Angelman syndrome to date.

Learn more

Ladder Learning Network

LADDER Learning Network is a medical network specifically designed for individuals with Angelman syndrome (AS) and dup15q—two rare disorders affecting the q-arm of the 15th chromosome. The network connects families to more than 40 specialty medical professionals across the globe. Additionally, the network maintains a robust global network of patient-powered data that is used to improve care for people living with Angelman or Dup15q syndrome. The heightened level of data analysis and discovery within LADDER increases our understanding of 15q-related disorders and helps researchers target therapies and advance clinical trials more quickly and efficiently.

Learn more about LADDER

Angelman Syndrome Clinical Network

The Angelman Syndrome Foundation Clinics give patients unprecedented access to the highest quality, evidence-based medical care, customized to their needs. Visit one of our worldwide locations.

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