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 ?
Angelman syndrome is a rare, neurogenetic disorder caused by loss-of-function of the maternally inherited allele of the UBE3A gene.
'GeneTx was formed by the Foundation for Angelman Syndrome Therapeutics (FAST), the largest patient organization in the Angelman community.
Angelman syndrome is caused by the loss of function of a specific gene during fetal development, resulting in severe neurological impairment present at birth and lasting for a lifetime.
Last February, the family launched a campaign where Kimia donated her golden locks to charity to create awareness about Angelman Syndrome. Image Credit: Clint Egbert/Gulf News
Patients with Angelman syndrome typically have motor dysfunction, often extreme: "These kids are very excitable, very active, and they have lots of trouble with sleep," said Alex Kolevzon, MD, professor of psychiatry and pediatrics at the Icahn School of Medicine at Mount Sinai, New York, in an interview.
His niece Ella has Angelman Syndrome and his sister Lisa Court is a trustee and treasurer for the charity, which helps families across the UK.
A very rare medical condition, Angelman Syndrome is not something most other kids, even adults, in the UAE are aware of.
Glenn et al., "Familial cryptic translocation resulting in Angelman syndrome: Implications for imprinting or location of the Angelman gene?" American Journal of Human Genetics, vol.
Angelman syndrome (AS) is a neurodegenerative disorder first described by English pediatrician Angelman in 1965.
Limited information is available regarding a link between Angelman syndrome and urothelial carcinoma.
The most common microdeletion syndromes are DiGeorge syndrome (22q11.2), Prader-Willi syndrome, Angelman syndrome (15qu-13), Williams syndrome (7qu.23), and Wolf-Hirschhorn syndrome (4p16.3).
One of the shoppers who immediately took to it is Lisa Jamieson who uses it with her 16 year-old daughter Carly, who suffers from Angelman Syndrome, a rare genetic disorder.