Prader Willi
Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15.
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Symptoms in Newborns:
- Weak muscles.
- Poor feeding.
- Slow development.
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Childhood Symptoms:
- Constant hunger, which often leads to obesity and type 2 diabetes.
- Mild to moderate intellectual impairment.
- Behavioral problems.
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Physical Characteristics:
- Narrow forehead.
- Small hands and feet.
- Short height.
- Light skin and hair.
- Most affected individuals are unable to have children.
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Genetic Mechanisms:
- Paternal deletion: About 74% of cases occur when part of the father’s chromosome 15 is deleted.