User:Mr. Ibrahem/Prader–Willi syndrome
Medical condition / From Wikipedia, the free encyclopedia
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]
Prader–Willi syndrome | |
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Other names | Labhart–Willi syndrome, Prader's syndrome, Prader–Labhart–Willi-Fanconi syndrome[1] |
Eight-year-old with Prader–Willi syndrome, exhibiting characteristic obesity[2] | |
Pronunciation | |
Specialty | Medical genetics, psychiatry, pediatrics |
Symptoms | Babies: weak muscles, poor feeding, slow development[3] Children: constantly hungry, intellectual impairment, behavioural problems[3] |
Complications | Obesity, type 2 diabetes[4] |
Duration | Lifelong[5] |
Causes | Genetic disorder (typically new mutation)[3] |
Differential diagnosis | Spinal muscular atrophy, congenital myotonic dystrophy, familial obesity[6] |
Treatment | Feeding tubes, strict food supervision, exercise program, counseling[7] |
Medication | Growth hormone therapy[7] |
Frequency | 1 in 10,000–30,000 people[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]