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 ?
A very rare medical condition, Angelman Syndrome is not something most other kids, even adults, in the UAE are aware of.
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.
Caption: HEROIC SPIRIT: Ethan has two paternal 15th chromosomes, a rare form of a genetic disorder known as Angelman syndrome.
Some microdeletion syndromes are very rare, while others are more common such as DiGeorge syndrome, Prader-Willi syndrome, Angelman syndrome, Williams syndrome, and Wolf-Hirschhorn syndrome.
Kit has Angelman syndrome, a rare genetic condition which affects the nervous system.
This Saturday, Luke is running in the Bangor 10k to help raise awareness of Angelman Syndrome and ASSERT, and Rachel said it is the first time a public awareness event for AS has taken place in North Wales.
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.
Angelman Syndrome Foundation National Walk - 9:15 a.
Birkenhead-born Dr Harry Angelman noticed similarities between previously undiagnosed children admitted to his ward at Warrington Hospital and realised they shared a common cause for their illness - now known as Angelman Syndrome.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are complex genetic disorders with clinically distinct phenotypes, although both map to 15q11-q13.
Megan suffers from Angelman syndrome, which causes severe physical and mental disability.
Contributed by psychiatrists, psychologists, pediatricians, neurologists, and other researchers from across the globe, the 26 chapters cover medical and genetic aspects, epidemiology, life course, assessment, features, outcomes, research advances, and interventions for Down, Tourette, Fragile X, Williams, Prader-Willi, Smith-Magenis, and Angelman syndromes; Rett disorder; tuberous sclerosis complex; acquired brain injury; ADHD; autism; epileptic and fetal alcohol disorders; extreme deprivation; developmental language disorders and intellectual disability; preterm and low birth weight babies; and other disorders.