Prader-Willi Syndrome - Medtick
Medtick

Prader-Willi Syndrome

What is it?

Rare genetic disorder that results in a number of physical, mental and behavioural problems.

Person with this condition will like to pick their skin causing skin infections.

Cause

  • Family history from father
  • Error in one or more genes. Although the exact mechanisms responsible haven’t been identified, the problem lies in the genes (missing genetic information) located in a particular region of chromosome 15.
  • Affect function of the hypothalamus (this is located in the brain and  plays a crucial role in many important functions, including: releasing hormones. regulating body temperature and appetite).

Symptoms

(Symptoms can vary and develop slowly)

  • Constant sense of hunger (that usually begins at about 2 years of age)?
  • General discomfort (muscle weakness), uneasiness or ill feeling (malaise) and/or fatigue (tiredness)?
  • Loss of muscle and/or muscle are shrinking?
  • Difficulty using arms, body and legs, lack of stamina, walking difficulties?
  • Almond-shaped eyes and/or a narrowing of the head at the temples and/or a turned-down mouth?
  • Thin upper lip?
  • Shorter than average (lack of growth hormone)?
  • High body fat (slow metabolism) and/or weight gain (not always)?
  • Small narrow hands and feet?
  • Brittle, soft weak bones, dental problems and/or prone to fractures or curved/bone legs and/or curved spine?
  • Pain in pelvis area and/or lower back/hip problems?
  • Reduced saliva flow/dry mouth?
  • Crossed eyes and/or long-sightedness (one can see nearby objects blurry and further objects clearly-hyperopia)?
  • Blurred vision?
  • Problems regulating body temperature?
  • High pain tolerance?
  • Hair, eyes and/or skin to be pale?
  • One find passing stools difficult (can be painful) and constipated?
  • Small and/or undeveloped genitals (both male and females)?

Female:

  • May not start menstruating until their 30s or may never menstruate?

Male:

  • Delayed puberty?
  • Men/boys may not have much facial hair?
  • Voice may never fully deepen?

Complications /Information to beware of/General tips:

Do not wait, phone for an ambulance if have or develop:

  • Peritonitis (risk of stomach rupture as person will try to eat anything and a lot of food)

This condition can lead to:

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Prader-Willi Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

© Medtick - 2025. All Rights Reserved.