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16 Interesting Facts About Prader-Willi Syndrome

Facts About Prader-Willi Syndrome:


Prader-Willi syndrome is a genetic disease that is caused by the loss of function of a few genes in a particular region of chromosome 15, affecting numerous parts of the body.

PWS is characterized by weak muscles in infancy, poor feeding, followed by behavioral problems and excessive eating in childhood.

List Of 16 Interesting Facts About Prader-Willi Syndrome:

#1 In 1887, Langdon-Down, a British physician, was the first to describe a girl with the syndrome, with the following symptoms – obesity, hypogonadism, short stature, and mental impairment. He termed the condition polysarcia.

#2 In 1956, Prader-Willi syndrome was described by Swiss doctors Alexis Labhart, Andrea Prader, and Heinrich Willi based on the clinical traits of 9 kids they examined.

#3 PWS is the most frequent genetic cause of life-threatening childhood obesity.


#4 Both sexes are affected equally. It occurs in 1:10,000 to 1:30,000 live births and affects between 350,000 and 400,000 people worldwide.

#5 An estimated 1% of children who have PWS also have a family history of the syndrome.

Icd 10

#6 Q87.1 – it is the code of a congenital malformation syndrome that is mainly linked with short stature.

Life Expectancy

#7 The life expectancy for patients with the syndrome is near normal, and most can lead healthy and productive lives. Obesity and its complications are the main factors that are contributing to a shorter life expectancy.


#8 It is a complex multisystem disorder that is caused by the absent expression of the paternally active genes on chromosome 15 (15q11.2-q13).

#9 The genetic errors causing PWS occurs in one of 3 ways:

  • the father’s genes on chromosome 15 contain an error or defect;
  • the baby inherits 2 copies of chromosome 15 from the mother, however, he has no chromosome 15 from the father;
  • genes that a baby usually inherits from the father for chromosome 15 are missing completely.


#10 The main features of the syndrome include:

  • sticky saliva;
  • a characteristic appearance with a narrow bifrontal diameter, a small upturned nose, down-turned corners of the mouth, dolichocephaly (a condition where the head is longer than would be expected), strabismus, and almond-shaped eyes;
  • endocrine disturbances, such as – growth hormone deficiency;
  • infantile hypotonia (a condition of decreased muscle tone), which improves with age;
  • small feet and hands;
  • failure to thrive in the early years;
  • feeding difficulties;
  • short stature (after the second decade of life);
  • skin picking;
  • obsessive-compulsive behaviors;
  • stubbornness;
  • hypogonadism;
  • intellectual disability;
  • hyperphagia (abnormally increased appetite for food) and the subsequent early onset of childhood obesity, especially if not controlled.

When to Call the Doctor

#11 Parents should consult a healthcare professional if the following signs and symptoms appear:

  • rapid weight gain;
  • difficulty feeding at the infant stage;
  • the constant seeking of food in a child;
  • floppiness when held;
  • a lack of response to normal stimulation;
  • problems waking up.


#12 A baby with PWS is prone to a variety of behavioral and health problems, such as:

  • temper tantrums;
  • compulsive and obsessive behaviors, like – picking at the skin;
  • problems with short-term memory;
  • eye problems, like – nearsightedness;
  • sleep apnoea, a disorder that is marked by frequent pauses in breathing during sleep;
  • short stature, frequently due to growth hormone deficiency;
  • teeth problems, including tooth grinding and soft enamel;
  • delayed onset of puberty;
  • heart failure;
  • osteoporosis;
  • type 2 diabetes mellitus, which is triggered by obesity;
  • abnormally small penis in boys;
  • absent or delayed menstrual periods in girls;
  • kyphosis, an abnormally excessive convex curvature of the spine;
  • scoliosis.

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Diagnosisdoctor diagnosis

#13 The syndrome can usually be confirmed by carrying out genetic testing. The main method of testing is a methylation analysis, which detects over 99 percent of cases.

#14 People with PWS may need the following imaging studies:

  • if cor pulmonale (an alteration in the structure and function of the right ventricle) is suspected – chest radiography;
  • scoliosis films;
  • for detection and monitoring of osteoporosis – serial dual-energy x-ray absorptiometry scanning;
  • to evaluate for hypopituitarism (a chronic endocrine illness) – magnetic resonance imaging of the head;
  • hip films to screen for hip dysplasia;
  • extremity film for limp evaluation.

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#15 There is no cure for PWS, and most research has been focused on treating the symptoms. Treatment for the specific symptoms includes the following:

  • treatment of sleep problems – treating sleep apnea can improve behavioral issues and daytime sleepiness;
  • human growth hormone – it is effective in decreasing body fat, increasing height, improving weight distribution, increasing muscle mass, increasing bone mineral density, and increasing stamina;
  • physical therapy – it will help build lean body mass as well as it may increase muscular strength. You can include half an hour of walking the dog, twenty minutes playing in the garden before tea, and a brisk scoot to and from school.

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#16 Since obesity is a common issue, management through strict supervision of food intake is essential for individuals with PWS.

To prevent obesity, it is recommended to:fruits and veggies

  • limit screen time – limit all viewing to a maximum of 120 minutes per day. Also, avoid letting them snack mindlessly while playing on the computer or watching TV;
  • never force your child to eat more when they have had enough;
  • never insist on a clean plate;
  • do not supersize – according to research, larger portions mean that we automatically eat more;
  • limit takeaways and meals out;
  • eat a healthy breakfast that is rich in fresh fruits;
  • eliminate sweetened soft drinks as they are an unnecessary source of calories;
  • establish a regular meal and snack pattern;
  • have a regular diet rich in foods that contain dietary fiber, such as fruits (mangoes, apples, pineapples, papayas, pears), vegetables (tomatoes, sweet bell pepper, carrots, broccoli, cabbage, cauliflower, radishes, turnips), legumes (lentils, chickpeas, kidney beans, green peas), nuts (walnuts, almonds, hazelnuts, cashews), and seeds (flax seeds, chia seeds, sesame seeds, sunflower seeds).