Angelman syndrome

Last revised by Rohit Sharma on 26 Feb 2024

Angelman syndrome refers to a genetic and neurodevelopmental condition principally affecting the central nervous system.

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.

A large number of clinical features have been described, including:

  • microcephaly

  • 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

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.

It is named after Harry Angelman (1915-1996), a British pediatrician, who first described the condition in 1965.

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