Angelman syndrome refers to a genetic and neurodevelopmental condition principally affecting the central nervous system.
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Epidemiology
The reported estimated incidence can variable ranging from around 1 in 20,000 to 1 in 12,000 live births. No definite gender predilection has been described.
Clinical features
A large number of clinical features have been described, including:
protruding tongue and jaw
intellectual disability and (global) developmental disability
limited or lack of functional speech
balance and movement dysfunction
seizures
sleep disorders
happy disposition 3
uncontrollable laughter 5
Pathology
Genetics
Angelman syndrome is caused by mutation to the UBE3A gene on chromosome 15q11.2-13 1,2. It is usually not inherited and caused by de novo mutations (most commonly deletions), but when inherited demonstrates maternal inheritance with imprinting 6.
History and etymology
It is named after Harry Angelman (1915-1996), a British pediatrician, who first described the condition in 1965.
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