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).

Source: Pinterest

Source: Glogster

Source: Southwest Florida's Health and Wellness Magazine

Source: ResearchGate 'Phenotype of the patient at the age of 15 years. a. Note the central obesity, short stature, café-au-lait spots and facial features of Prader-Willi. b and c. Small hands and feet'

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:

Obesity (as one always feel hungry)
Anxiety
Stress
Depression
Obsessive-compulsive disorder (repeat same actions)
Hypothyroidism
Hypogonadism
Addison disease (not produce enough stress hormones)
Amenorrhea
Myopia
Scoliosis
Osteoporosis
Late development when baby and child i.e. walking-(child with the syndrome will typically begin sitting up at around 12 months and start walking at around 24 months) and delayed talking (pronouncing words and sounds)
Problems with thinking, reasoning and problem-solving
Sleep apnoea

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).

NHS
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Medscape
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Pharmaceutical Journal
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National Organisation of Rare Diseases
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