Angelman syndrome


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Angelman syndrome

[′aŋ·gəl·mən ‚sin‚drōm]
(medicine)
A genetic disorder that is caused by defects on the maternally derived chromosome 15, causing severe mental retardation, absence of speech, microcephaly, facial dysmorphism, seizures, neonatal hypotonia, ataxic movements, and inappropriate laughter.
References in periodicals archive ?
But she is determined to raise greater awareness about the condition to mark Angelman Syndrome Day on February 15.
Beyond these, Angelman syndrome is caused by lack of or excess of UBE3A, which leads to autistic features (31).
Whereas the origin of the deleted chromosome 15 is paternal in PWS, it is always maternal in Angelman syndrome (AS) [11-16].
ASSERT, the UK support group for families of those with Angelman Syndrome, is now hoping to invite his surviving relatives to the European Science and Research conference it is holding in Liverpool in October.
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
The boy has Angelman syndrome or a rare condition characterized with profound speech impairment, developmental delay, severe intellectual disability, movement and sleeping disorders.
According to Wikipedia, signs of Rett syndrome are most easily confused with those of Angelman syndrome, cerebral palsy and autism.
Her son, James Edgar, suffers from a rare condition called Angelman syndrome, which means he has epilepsy, learning difficulties and limited mobility.
While oldest son Jack is studying classics in Newcastle, 18-year-old Kit suffers from Angelman syndrome, a rare genetic disorder that left him blind and unable to walk or talk.
Brody has Angelman Syndrome (AS), a non life-threatening chromosome disorder, which causes severe learning difficulties.
He is one of just 350 children in Britain with Angelman Syndrome, a neurological disorder which leaves sufferers smiling and laughing but unable to sleep.
Angelman syndrome occurs in about one in 15,000 live births.