Angelman syndrome


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An·gel·man syn·drome

[MIM*105830]
microdeletion of 15q-13, of maternal origin, resulting in mental retardation, ataxia, paroxysms of laughter, seizures, characteristic facies, and minimal speech. See: Prader-Willi syndrome.

Angelman syndrome

(ăn′jəl-mən, ān′-)
n.
A neurodevelopmental genetic disorder characterized by ataxic movements, speech impairment, epileptic seizures, intellectual disability, and frequent laughter.

Angelman syndrome

A rare autosomal recessive form of infantile epilepsy (OMIM:234400) characterised by seizures, profound mental retardation, microcephaly (occasionally), unilateral cerebral atrophy, flattened occiput, large mandible, protruding jaw and tongue, a smiling open-mouthed facial expression, paroxysms of inappropriate laughter, gait ataxia, and spastic “bouncing” movements of the extremities (likened to those of a marionette).

An·gel·man syn·drome

(an'jĕl-măn sin'drōm)
Genetic condition characterized by mental retardation, seizures, ataxic gait, jerky movements, lack of speech, and frequent smiling or laughing.

Angelman,

Harry, 20th century English physician.
Angelman syndrome - recessive gene causing motor dysfunction, mental retardation, hypotonia. Synonym(s): happy puppet syndrome

An·gel·man syn·drome

(an'jĕl-măn sin'drōm) [MIM*105830]
Microdeletion of 15q-13, of maternal origin, resulting in mental retardation, ataxia, paroxysms of laughter, seizures, characteristic facies, and minimal speech.
References in periodicals archive ?
Kishino T, Lalande M, Wagstaf J: UBE3A/E6-AP mutations cause Angelman syndrome.
This year it is not only the 50th anniversary of Angelman Syndrome being discovered and documented by Dr Angelman but it would have also been his 100th birthday.
A family from Te Atatu Peninsula said they were learning new ways to communicate with their son after attending a conference about Angelman syndrome in Australia.
Then our health visitor, who had seen a child with Angelman syndrome before, mentioned it to his paediatrician and he was soon diagnosed.
Angelman Syndrome affects chromosome 15, leaving most sufferers unable to talk and with severe learning disabilities.
Researchers don't yet know whether the drugs can restore UBE3A protein production in human brain cells, or if turning the gene back on will reverse abnormalities in Angelman syndrome mice.
Horbelt CVA review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome.
Jane, 40, has Angelman Syndrome and is desperately in need of a stairlift.
Christopher, who suffered from the rare genetic disorder of Angelman Syndrome was brought back to Swansea, where he largely grew up, to be cremated after his death.
July 21-25: International Conference, Canadian Angelman Syndrome Society, Edmonton, charles@angelmancanada.
Two other neurodevelopmental disorders, Prader-Willi syndrome and Angelman syndrome, have also been linked with damage to the same area of chromosome 15.