Genetic disorder caused by part of the mother's chromosome 15 being missing
For the rare genetic skeletal disorder sometimes called Engelmann syndrome, see Camurati–Engelmann disease.
Medical condition
Angelman syndrome
Other names
Angelman's syndrome[1][2]
A five-year-old girl with Angelman syndrome. Features shown include telecanthus, bilateral epicanthic folds, small head, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.
Pronunciation
/ˈæŋɡəlmən/,[3][1]/ˈændʒəlmən/,[2][4] or /ˈeɪndʒəlmən/[2][4][5]
Specialty
Medical genetics
Symptoms
Delayed development, unusually happy, intellectual disability, limited to no functional speech, balance and movement problems, small head, seizures[6]
Usual onset
Noticeable by 6–12 months[6]
Causes
Genetic (new mutation)[6]
Diagnostic method
Based on symptoms, genetic testing[7]
Differential diagnosis
Cerebral palsy, autism, Rett syndrome, Prader–Willi syndrome[7][8]
Treatment
Supportive care[7]
Prognosis
Nearly normal life expectancy[6]
Frequency
1 in 12,000 to 20,000 people[6]
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.[6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems.[6] Children usually have a happy personality and have a particular interest in water.[6] The symptoms generally become noticeable by one year of age.[6]
Angelman syndrome is due to a lack of function of part of chromosome 15, typically due to a new mutation rather than one inherited.[6] Most often it is due to a deletion or mutation of the UBE3A gene on that chromosome.[6] Occasionally it is due to the inheritance of two copies of chromosome 15 from the father and none from the mother (paternal uniparental disomy).[6] As the father's versions are inactivated by a process known as genomic imprinting, no functional version of the gene remains.[6] Diagnosis is based on symptoms and possibly genetic testing.[7]
No cure is available.[7] Treatment is generally supportive in nature.[7] Anti-seizure medications are used in those with seizures.[7] Physical therapy and bracing may help with walking.[7] Those affected have a nearly normal life expectancy.[6]
AS affects 1 in 12,000 to 20,000 people.[6] Males and females are affected with equal frequency.[7] It is named after British pediatrician Harry Angelman, who first described the syndrome in 1965.[7][9] An older term, happy puppet syndrome, is generally considered pejorative.[10] Prader–Willi syndrome is a separate condition, caused by a similar loss of the father's chromosome 15.[11]
^ ab"Angelman syndrome". Oxford English Dictionary. Archived from the original on June 17, 2020 – via Lexico.com.
^ abc"Angelman syndrome". Merriam-Webster Medical Dictionary. Merriam-Webster. Retrieved April 15, 2022 – via Merriam-Webster.com.
^"Angelman syndrome". McGraw-Hill Dictionary of Scientific & Technical Terms. The McGraw-Hill Companies, Inc. 2003. Retrieved April 15, 2022 – via thefreedictionary.com.
^ ab"Angelman syndrome". American Heritage Medical Dictionary (2007 ed.). Houghton Mifflin Company. 2004. Retrieved April 15, 2022 – via thefreedictionary.com.
^Urraca N, Reiter L (2013). "Angelman syndrome". Comprehensive Developmental Neuroscience: Neural Circuit Development and Function in the Heathy and Diseased Brain. Elsevier Inc. Chapter 32. ISBN 9780128063415. Retrieved April 15, 2022 – via Google Books.
^ abcdefghijklmno"Angelman syndrome". ghr.nlm.nih.gov. Genetics Home Reference, US National Institutes of Health. May 2015. Archived from the original on 27 August 2016. Retrieved 28 April 2017.
^ abcdefghij"Angelman Syndrome". rarediseases.org. National Organization for Rare Disorders (NORD). 2015. Archived from the original on 13 November 2016. Retrieved 28 April 2017.
^"Common Misdiagnoses". Foundation For Angelman Syndrome Therapeutics. 2 August 2019. Retrieved 10 March 2024.
^Angelman H (1965). "'Puppet' Children: A report of three cases". Developmental Medicine & Child Neurology. 7 (6): 681–688. doi:10.1111/j.1469-8749.1965.tb07844.x. S2CID 53730099.
^Wilson GN, Cooley WC (2000). Preventive Management of Children with Congenital Anomalies and Syndromes. Cambridge University Press. p. 193. ISBN 9780521776738. Archived from the original on 2017-11-05.
^Kumar V, Abbas AK, Aster JC (2013). "Genetic and Pediatric Diseases". Robbins Basic Pathology. Elsevier Health Sciences. p. 244. ISBN 978-1437717815. Archived from the original on 2017-11-05. Retrieved 2022-04-15 – via Google Books.
Angelmansyndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe...
MIR9-3 host gene NIPA2: encoding protein Non-imprinted in Prader-Willi/Angelmansyndrome region protein 2 NUSAP1: encoding protein Nucleolar and spindle associated...
deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and Angelmansyndrome. The chromosomal...
Harry Angelman (13 August 1915 – 8 August 1996) was a British consultant paediatrician who identified and named Angelmansyndrome. Angelman was born in...
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a female is partially or completely missing an X chromosome (sex chromosome...
under way for Neuroblastoma, Brainstem glioma, Ewing's sarcoma and Angelman'ssyndrome. In addition, topotecan is experimentally treating Non-small cell...
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
especially among the Old Order Amish. These disorders include dwarfism, Angelmansyndrome, and various metabolic disorders, such as Tay-Sachs disease, as well...
inheritance patterns including Prader-Willi/AngelmanSyndromes, Beckwith-Wiedemann Syndrome, and Silver-Russell Syndrome. Disorders of imprinting are thought...
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. Symptoms include...
Prader–Willi syndromeAngelmansyndrome Neurofibromatosis type I Neurofibromatosis type II Williams syndrome Miller–Dieker syndrome Smith–Magenis syndrome Rubinstein–Taybi...
within the UBE3A gene are responsible for some cases of Angelmansyndrome and Prader-Willi syndrome. Most of these mutations result in an abnormally short...
in many human neurodevelopmental disorders and syndromes such as Angelmansyndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism...
(e.g., nitrous oxide and insecticides), fou rire prodromique, and Angelmansyndrome. It is hypothesized that these primary neurologic injuries and diseases...
diseases involving genomic imprinting include Angelman, Prader–Willi, and Beckwith–Wiedemann syndromes. Methylation defects have also been associated...
to change their lives. He is an advocate for people afflicted with AngelmanSyndrome. Farrell owns homes in Dublin and Los Angeles. In 2013, he revealed...
Syndromic autism (or syndromic autism spectrum disorders) denotes cases of autism spectrum disorder that are associated with a broader medical condition...
general population. Between 1 and 10% of those with Down syndrome and 90% of those with Angelmansyndrome have epilepsy. Phakomatoses, also known as neurocutaneous...
UCLA campus in Los Angeles, California. Angelmansyndrome Fragile X syndrome Rett syndrome White Sutton syndrome Conditions comorbid to autism spectrum...
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