Prader-Willi Syndrome
What is Prader-Willi syndrome?
Prader-Willi syndrome (sometimes referred to as Prader-Labhart Willi Syndrome) is a congenital, rare and complex genetic disorder that is linked to a disorder of chromosome 15. It affects many parts of the body. People with this condition are typically obese, have reduced mental ability, reduced muscle tone, and their sex glands produce little or no hormones.
(Prader-Willi Syndrome Association, 2012)
Causes, Incidence and Risk Factors
Signs and Symptoms
Signs that may be seen at birth include:
Other symptoms typically include:
Major characteristics of the syndrome include:
Testing
How Common is Prader-Willi syndrome?
The syndrome occurs in 1 in 12,000-15,000 of the population, and affects sex and race equally. The syndrome is believed to have a profound affect on the oral health of the patients who suffer from the syndrome.
(Prader-Willi Syndrome Association, 2012)
Does treatment exist for those with Prader-Willi syndrome?
Obesity is the greatest threat to health. It is important to limit calories and exercise regularly.
Growth hormones are approved by the Food and Drug Administration for the treatment of Prader-Willi syndrome. The growth hormone can:
(PubMed, 2012)
Prader-Willi syndrome (sometimes referred to as Prader-Labhart Willi Syndrome) is a congenital, rare and complex genetic disorder that is linked to a disorder of chromosome 15. It affects many parts of the body. People with this condition are typically obese, have reduced mental ability, reduced muscle tone, and their sex glands produce little or no hormones.
(Prader-Willi Syndrome Association, 2012)
Causes, Incidence and Risk Factors
- The etiology of Prader-Willi syndrome is a missing gene on part of chromosome 15.
- Each parent passes down a copy of chromosome 15.
- Most patients with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome. Some patients will have two copies of the mother's chromosome 15.
- Typically those who are born with Prader-Willi syndrome do not have a family history of the condition. The genetic changes occur randomly.
Signs and Symptoms
Signs that may be seen at birth include:
- Undescended testicles in male infants.
- Newborns are small and floppy.
Other symptoms typically include:
- Weight gain as an infant
- Trouble eating
- Almond-shaped eyes
- Delayed motor development
- Slow mental development
- Rapid weight gain
- Short stature
- Narrow bifrontal skull
- Small hands and feet in comparison to the child's body
Major characteristics of the syndrome include:
- hyperphagia
- esophageal reflux
- mild to moderate cognitive impairment
- behavioral issues
- hypotonia
- hypogonadism
Testing
- Children may be tested for Prader-Willi syndrome through the use of genetic testing.
- Laboratory tests may show signs of morbid obesity which includes:
- Abnormal glucose tolerance
- Abnormal levels of insulin the the blood
- Decreased level of oxygen in the blood
- Failure to respond to luteinizing hormone releasing factor
- Right-sided heart failure
- Knee and hip problems
How Common is Prader-Willi syndrome?
The syndrome occurs in 1 in 12,000-15,000 of the population, and affects sex and race equally. The syndrome is believed to have a profound affect on the oral health of the patients who suffer from the syndrome.
(Prader-Willi Syndrome Association, 2012)
Does treatment exist for those with Prader-Willi syndrome?
Obesity is the greatest threat to health. It is important to limit calories and exercise regularly.
Growth hormones are approved by the Food and Drug Administration for the treatment of Prader-Willi syndrome. The growth hormone can:
- Improve physical strength and agility
- Improve height
- Increase lean muscle mass
- Decrease body fat
- Increase stamina
- Improve weight distribution
- Increase bone mineral density
(PubMed, 2012)