Angelman syndrome (AS) is a genetic condition that causes problems with the way a child's body and brain develop. The syndrome is present from birth (congenital). However, it often isn't diagnosed until about 6 to 12 months of age. This is when development problems are first noticed in most cases.
This condition involves the gene UBE3A.
Most genes come in pairs. Children receive one from each parent. In most cases, both genes are active. This means information from both genes is used by the cells. With the UBE3A gene, both parents pass it on, but only the gene passed on from the mother is active.
Angelman syndrome most often occurs because UBE3A passed on from the mother doesn't work the way it should. In some cases, AS is caused when two copies of UBE3A gene come from the father, and none come from the mother. This means neither gene is active, because they both come from the father.
In newborns and infants:
In toddlers and older children:
Most children with this disorder don't show symptoms until about 6 to 12 months. This is when parents may notice a delay in their child's development, such as not crawling or starting to talk.
Children between 2 and 5 years of age start to show symptoms such as jerky walking, happy personality, laughing often, no speech, and intellectual problems.
There is no cure for Angelman syndrome. Treatment helps to manage health and development problems caused by the condition.
Lynne Bird is a Pediatrics specialist and a Medical Genetics doctor in San Diego, California. Dr. Bird has been practicing medicine for over 35 years and is rated as an Elite doctor by MediFind in the treatment of Angelman Syndrome. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Angelman Syndrome, Weaver Syndrome, SHORT Syndrome, and Sotos Syndrome. She is licensed to treat patients in California. Dr. Bird is currently accepting new patients.
Merlin Butler is a Pediatrics specialist and a Medical Genetics doctor in Kansas City, Kansas. Dr. Butler has been practicing medicine for over 44 years and is rated as an Elite doctor by MediFind in the treatment of Angelman Syndrome. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Angelman Syndrome, Prader-Willi Syndrome, Aminoaciduria, and 15q11.2 Microdeletion. He is licensed to treat patients in Missouri. Dr. Butler is currently accepting new patients.
Karin Buiting is in Essen, Germany. Buiting is rated as an Elite expert by MediFind in the treatment of Angelman Syndrome. She is also highly rated in 12 other conditions, according to our data. Her top areas of expertise are Angelman Syndrome, Macroglossia, Beckwith-Wiedemann Syndrome, and Gigantism.
Angelman Syndrome Foundation: www.angelman.org
People with AS live close to a normal lifespan. Many have friendships and interact socially. Treatment helps improve function. People with AS can't live on their own. However, they may be able to learn certain tasks and live with others in a supervised setting.
Complications may include:
Call your health care provider if your child has symptoms of this condition.
There is no way to prevent Angelman syndrome. If you have a child with AS or a family history of the condition, you may want to talk with your provider before becoming pregnant.
Published Date : July 30, 2021
Published By : Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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