Lia & Elizabeth

external image Prader-Willi-Syndrome-2.gif
Where on Chromosome is Problem?
Chromosome 15, deletion of a whole chromosome missing.

What Is the Problem?

Problems with Prader-Willi Syndrome occur throughout the stages of life, but the most common physical traits in adults include a prominent nasal bridge, small hands and feet with tapering of fingers, soft skin which is easily bruised, excess fat primarily in the central portion of the body, high narrow forehead, almond shaped eyes with thin turned down lids, light skin and hair in comparison to other family members, lack of complete sexual development, frequent skin picking, stretch marks, and delayed motor development.

Birth: Breech or cesarean births, lethargy, low muscle tone, feeding difficulties, diminished functionality of the sexual organs.

Infancy: Feeding difficulties, intellectual delay, excessive sleeping, crossed eyes, scoliosis (often not detected at birth), absence of one or more testes in males.

Childhood: Speech delay, poor physical condition, overeating from ages 2-8 years, excessive weight gain, sleep disorders and scoliosis.

Adolescence: Delayed puberty, short stature, obesity, extreme flexibility.

Adulthood: Infertility (in both males and females), diminished functionality of the sexual organs, sparse pubic hair, obesity, low muscle tone, learning disabilities (but some cases of average intelligence), prone to diabetes, extreme flexibility.

What is the Prognosis?

If obesity is avoided and complications are well managed, life expectancy for individuals with Prader Willi Syndrome is normal or near-normal. Most people with this syndrome can lead healthy lives if it is diagnosed early and a treatment plan is put in place to avoid the complications of uncontrolled obesity. Early education of caregivers and a controlled environment are key to a good future with individuals who are born with this chromosomal disorder.

Cite Your Sources

"Prader-Willi Syndrome - Description." Medical Home Portal. N.p., n.d. Web. 5 Mar 2013. <