Angelman syndrome is a genetic condition caused by loss of function or expression of the maternal copy of the UBE3A gene on chromosome 15. This can be the result of one of the following mechanisms:
- Maternal deletion of the gene
- Mutation in the maternal copy of the gene
- Both copies of the gene inherited from the father
Features
Key features of Angelman Syndrome include:
- Delayed development and learning disability
- Severe delay or absence of speech development
- Coordination and balance problems (ataxia)
- Fascination with water
- Happy demeanour
- Inappropriate laughter
- Hand flapping
- Abnormal sleep patterns
- Hyperactivity
- Epilepsy
- Wide mouth with widely-spaced teeth
- Microcephaly (small head)
- Fair skin, light hair and blue eyes
TOM TIP: The key features to remember are the unusual fascination with water, happy demeanour, severe speech impairment and ataxia.
Management
Management is supportive with input from the multidisciplinary team:
- Speech and language therapy plays an important role
- Melatonin may be used to help with sleep
- Antiepileptic drugs may be used to treat seizures
Last updated December 2025
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