Back متلازمة أنجيلمان Arabic Angelman sindromu Azerbaijani Angelmanov sindrom BS Síndrome d'Angelman Catalan Angelmanův syndrom Czech Angelman syndrom Danish Angelman-Syndrom German Síndrome de Angelman Spanish Angelmani sündroom Estonian سندرم آنجلمن Persian

Angelman syndrome

For the rare genetic skeletal disorder sometimes called Engelmann syndrome, see Camurati–Engelmann disease.
Angelman syndrome
Other namesAngelman'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
SpecialtyMedical genetics
SymptomsDelayed development, unusually happy, intellectual disability, limited to no functional speech, balance and movement problems, small head, seizures[6]
Usual onsetNoticeable by 6–12 months[6]
CausesGenetic (new mutation)[6]
Diagnostic methodBased on symptoms, genetic testing[7]
Differential diagnosisCerebral palsy, autism, Rett syndrome, Prader–Willi syndrome[7][8]
TreatmentSupportive care[7]
PrognosisNearly normal life expectancy[6]
Frequency1 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]

  1. ^ a b "Angelman syndrome". Oxford English Dictionary. Archived from the original on June 17, 2020 – via Lexico.com.
  2. ^ a b c "Angelman syndrome". Merriam-Webster Medical Dictionary. Merriam-Webster. Retrieved April 15, 2022 – via Merriam-Webster.com.
  3. ^ "Angelman syndrome". McGraw-Hill Dictionary of Scientific & Technical Terms. The McGraw-Hill Companies, Inc. 2003. Retrieved April 15, 2022 – via thefreedictionary.com.
  4. ^ a b "Angelman syndrome". American Heritage Medical Dictionary (2007 ed.). Houghton Mifflin Company. 2004. Retrieved April 15, 2022 – via thefreedictionary.com.
  5. ^ 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.
  6. ^ a b c d e f g h i j k l m n o "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.
  7. ^ a b c d e f g h i j "Angelman Syndrome". rarediseases.org. National Organization for Rare Disorders (NORD). 2015. Archived from the original on 13 November 2016. Retrieved 28 April 2017.
  8. ^ "Common Misdiagnoses". Foundation For Angelman Syndrome Therapeutics. 2 August 2019. Retrieved 10 March 2024.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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.

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