PRADER-WILLI SYNDROME

MUTATION TYPE

• This mutation is an autosomal recessive mutation.
• This mutation affects the 15th chromosome

Brief explanation:
Prader-Willi syndrome is a congenital disease that affects many parts of the body. People with PWS have reduced motor skills, muscle tone,mental ability and are often obese.

SYMPTOMS

• New borns are often small and floppy.
• Male infants may have undescended testicles.
• Trouble eating as an infant with poor weight gain.
• Almond shaped eyes.
• Delayed motor development.

SYMPTOMS (CONTINUED)

• Narrow bifrontal skull.
• Rapid weight gain.
• Short stature.
• Slow mental development.
• Very small hands and feet in comparison to body.

TREATMENTS

• Improve physical strength and agility.
• Improved heights.
• Increased lean muscle mass.
• Decreased body fat.
• Improved weight distribution.

TREATMENTS (CONTINUED)

• Increased stamina.
• Increased bone mineral density.

Life expectancy:
If the person with this mutation controls there weight then there life expectancy should be normal.

INTERESTING FACTS

• It was first describe in 1956 by Andrea Proder, Heinrich Willi, Alexis Labhart, Andrew Ziegler and Guido Fanconi.
• One in every 12,000 to 15,000 people has Prader-Willi syndrome.
• Although considered a rare disease it is one of the most known conditions in genetic clinics.
• People who have this mutation have a constant craving for food.
• Although people with this disorder are considered infertile several pregnancies have been confirmed.

SOURCES

• Ncbi.nlm.hih.gov
• Medicalhomeportal.org
• Pwsaus.org