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 affects approximately 1 in 15,000 individuals.[9] AS impairs the function of the nervous system, producing symptoms, such as severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, hyperactivity, and sleep problems.[10] Physical symptoms include a small head and a specific facial appearance.[10] Additionally, those affected usually have a happy personality and have a particular interest in water.[10] Angelman syndrome involves genes that have also been linked to 1–2% of autism spectrum disorder cases.[9]

  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 "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 "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. ^ a b Margolis SS, Sell GL, Zbinden MA, Bird LM (July 2015). "Angelman Syndrome". Neurotherapeutics: The Journal of the American Society for Experimental NeuroTherapeutics. 12 (3): 641–650. doi:10.1007/s13311-015-0361-y. ISSN 1878-7479. PMC 4489961. PMID 26040994.
  10. ^ a b c "Angelman syndrome". doi.org. Retrieved 2025-05-14.
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