11/01/2022
Prader-Willi Syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age. In Prader-Willi syndrome, a defect on chromosome 15 disrupts the normal functions of a portion of the brain called the hypothalamus, which controls the release of hormones. A hypothalamus that isn't functioning properly can interfere with processes that result in problems with hunger, growth, sexual development, body temperature, mood and sleep.
People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped ge****ls. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).
In addition to having constant hunger, people with Prader-Willi syndrome have low muscle mass, so they need fewer than average calories, and they may not be physically active. This combination of factors makes them prone to obesity and the medical problems related to obesity, such as diabetes, high blood pressure, heart disease, and sleep apnea.
A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi syndrome. Early diagnosis, early multidisciplinary care, and growth hormone treatment have greatly improved the quality of life of many affected children.