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 ?
ATRI will realize the Angelman Syndrome Foundation's "scientific roadmap" that directs its aggressive funding of Angelman Syndrome (AS) research.
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.
The boy has Angelman syndrome or a rare condition characterized with profound speech impairment, developmental delay, severe intellectual disability, movement and sleeping disorders.
A CHARITY event takes place in Sutton Coldfield next month for ASSERT, which helps children and adults affected by angelman syndrome, a rare genetic condition that causes severe learning difficulties.
According to Wikipedia, signs of Rett syndrome are most easily confused with those of Angelman syndrome, cerebral palsy and autism.
The World Health Organisation (WHO) states that rare diseases range from cystic fibrosis and haemophilia to Angelman Syndrome, with an incidence of about 1 in 15,000, to Opitz trigonocephaly syndrome, which is extremely rare with about one case per million people.
Assert - the Angelman Syndrome Support, Education and Research Trust - has launched a nationwide campaign to find the UK's 2,500 "missing" members of its Angelman family to mark the first ever International Angelman Day on February 15.
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.
Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader-Willi and Angelman syndrome.