Jump to content

User:Mr. Ibrahem/Prader–Willi syndrome

From Wikipedia, the free encyclopedia

Prader–Willi syndrome
Other namesLabhart–Willi syndrome, Prader's syndrome, Prader–Labhart–Willi-Fanconi syndrome[1]
Eight-year-old with Prader–Willi syndrome, exhibiting characteristic obesity[2]
Pronunciation
SpecialtyMedical genetics, psychiatry, pediatrics
SymptomsBabies: weak muscles, poor feeding, slow development[3]
Children: constantly hungry, intellectual impairment, behavioural problems[3]
ComplicationsObesity, type 2 diabetes[4]
DurationLifelong[5]
CausesGenetic disorder (typically new mutation)[3]
Differential diagnosisSpinal muscular atrophy, congenital myotonic dystrophy, familial obesity[6]
TreatmentFeeding tubes, strict food supervision, exercise program, counseling[7]
MedicationGrowth hormone therapy[7]
Frequency1 in 10,000–30,000 people[3]

Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes.[4] In newborns, symptoms include weak muscles, poor feeding, and slow development.[3] Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes.[3] Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder.[3] Often, affected individuals have a narrow forehead, small hands and feet, short height, light skin and hair, and are unable to have children.[3]

About 74% of cases occur when part of the father's chromosome 15 is deleted.[3] In another 25% of cases, the affected person has two copies of chromosome 15 from the mother and none from the father.[3] As parts of the chromosome from the mother are turned off, they end up with no working copies of certain genes.[3] PWS is not generally inherited, but rather the genetic changes happen during the formation of the egg, sperm, or in early development.[3] No risk factors are known for the disorder.[8] Those who have one child with PWS have less than a 1% chance of the next child being affected.[8] A similar mechanism occurs in Angelman syndrome, except the defective chromosome 15 is from the mother, or two copies are from the father.[9][10]

Prader–Willi syndrome has no cure.[5] Treatment may improve outcomes, especially if carried out early.[5] In newborns, feeding difficulties may be supported with feeding tubes.[7] Strict food supervision is typically required, starting around the age of three, in combination with an exercise program.[7] Growth hormone therapy also improves outcomes.[7] Counseling and medications may help with some behavioral problems.[7] Group homes are often necessary in adulthood.[7]

PWS affects between 1 in 10,000 and 1 in 30,000 people.[3] The condition is named after Swiss physicians Andrea Prader and Heinrich Willi who, together with Alexis Labhart, described it in detail in 1956.[1] An earlier description was made in 1887 by British physician John Langdon Down.[11][12]

References

[edit]
  1. ^ a b "Prader-Labhardt-Willi syndrome". Whonamedit?. Archived from the original on August 21, 2016. Retrieved August 20, 2016.
  2. ^ Cortés M, F; Alliende R, MA; Barrios R, A; Curotto L, B; Santa María V, L; Barraza O, X; Troncoso A, L; Mellado S, C; Pardo V, R (January 2005). "[Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome]". Revista Médica de Chile. 133 (1): 33–41. doi:10.4067/s0034-98872005000100005. PMID 15768148.
  3. ^ a b c d e f g h i j k l m "Prader-Willi syndrome". Genetics Home Reference. June 2014. Archived from the original on August 27, 2016. Retrieved August 19, 2016.
  4. ^ a b Madan-Khetarpal, Georgianne; Arnold, Georgianne; Oritz, Damara (2023). "1. Genetic disorders and dysmorphic conditions". In Zitelli, Basil J.; McIntire, Sara C.; Nowalk, Andrew J.; Garrison, Jessica (eds.). Zitelli and Davis' Atlas of Pediatric Physical Diagnosis (8th ed.). Philadelphia: Elsevier. pp. 14–15. ISBN 978-0-323-77788-9. Archived from the original on December 19, 2022. Retrieved December 19, 2022.
  5. ^ a b c "Is there a cure for Prader-Willi syndrome (PWS)?". NICHD. January 14, 2014. Archived from the original on August 27, 2016. Retrieved August 20, 2016.
  6. ^ Teitelbaum, Jonathan E. (2007). In a Page: Pediatrics. Lippincott Williams & Wilkins. p. 330. ISBN 9780781770453. Archived from the original on September 11, 2017. Retrieved September 8, 2017.
  7. ^ a b c d e f g "What are the treatments for Prader-Willi syndrome (PWS)?". NICHD. January 14, 2014. Archived from the original on August 10, 2016. Retrieved August 20, 2016.
  8. ^ a b "How many people are affected/at risk for Prader-Willi syndrome (PWS)?". NICHD. January 14, 2014. Archived from the original on August 27, 2016. Retrieved August 20, 2016.
  9. ^ "Prader-Willi Syndrome (PWS): Other FAQs". NICHD. January 14, 2014. Archived from the original on July 27, 2016. Retrieved August 19, 2016.
  10. ^ "Angelman syndrome". Genetic Home Reference. May 2015. Archived from the original on August 27, 2016. Retrieved August 20, 2016.
  11. ^ Mia, Md Mohan (2016). Classical and Molecular Genetics. American Academic Press. p. 195. ISBN 978-1-63181-776-2. Archived from the original on September 11, 2017.
  12. ^ Jorde, Lynn B.; Carey, John C.; Bamshad, Michael J. (2015). Medical Genetics (5 ed.). Elsevier Health Sciences. p. 120. ISBN 978-0-323-18837-1. Archived from the original on December 15, 2020. Retrieved September 8, 2017.
Retrieved from "https://en.wikipedia.org/w/index.php?title=User:Mr._Ibrahem/Prader–Willi_syndrome&oldid=1233786212"