lunes, 16 de febrero de 2015

Prader-Willi Syndrome

Prader-Willi syndrome is a congenital (present from birth) disease. It affects many parts of the body. People with this condition are obese, have reduced muscle tone and mental ability, and have sex glands that produce little or no hormones.


Causes
Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Normally, your parents each pass down a copy of this chromosome. Most persons with Prader-Willi syndrome are missing the genetic material on part of the father's chromosome. The rest of persons with this condition often have two copies of the mother's chromosome 15.
The genetic changes occur randomly. Persons who have this syndrome usually do not have a family history of the condition.

Symptoms
Signs of Prader-Willi syndrome may be seen at birth.
  • Newborns are often small and floppy.
  • Male infants may have undescended testicles.
Other symptoms may include:
  • Trouble eating as an infant, with poor weight gain
  • Almond-shaped eyes
  • Delayed motor development
  • Narrow bifrontal skull
  • Rapid weight gain
  • Short stature
  • Slow mental development
  • Very small hands and feet in comparison to the child's body
Children have an intense craving for food and will do almost anything to get it. This can result in uncontrollable weight gain and morbid obesity. Morbid obesity may lead to type 2 diabetes, high blood pressure, and joint and lung problems.

If you would like to obtain more information follow this link: http://en.wikipedia.org/wiki/Prader%E2%80%93Willi_syndrome
http://www.muyinteresante.es/salud/articulo/9-enfermedades-raras


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