Definition of Angelman syndrome in English:

Angelman syndrome

(also Angelman's syndrome)

Pronunciation /ˈaNGɡəlmən ˌsindrōm/ /ˈæŋɡəlmən ˌsɪndroʊm/

noun

  • A rare congenital disorder characterized by mental disability and a tendency toward jerky movement, caused by the absence of certain genes normally present on the copy of chromosome 15 inherited from the mother.

    ‘In addition, a defective E6 - AP is implicated in Angelman's syndrome.’
    • ‘Prader-Willi syndrome and Angelman syndrome are distinct disorders that are caused by the loss of the function of genes located on the long arm of chromosome 15.’
    • ‘Pat and his wife, Eva, have a 22-year-old daughter, Lisa, who has a profound disability called Angelman syndrome.’
    • ‘Disruption of UBE3A causes Angelman syndrome, a complex neurological disorder characterized by mental retardation and seizures.’
    • ‘The charity, based in the Edinburgh Hospital for Sick Children, provided support for Rankin and his wife Miranda when their youngest son, Kit, was diagnosed with Angelman syndrome.’

Origin

1970s named after Harold Angelman(1915–96), the British doctor who described the condition.