Prader Willi Syndrome

Though first described in 1887, Prader-Willi Syndrome was named after the researchers that studied it in great depth in the mid-1950s: Andrea Prader, Heinrich Willi, and Alexis Labhart. This genetic disorder occurs in between 0.003% and 0.01% of the population, affecting the sexes equally. The primary cause is when part of the paternal chromosome 15 is deleted; one-quarter of cases occurs when the child receives two copies of the maternal chromosome 15, portions of which are deactivated during development, leaving the child with no viable copies of this chromosome. For parents with one child with Prader-Willi Syndrome, there is a less than 1% chance that their next child will also have the disorder.

In infancy, the disorder manifests as weak muscles and slow development; in childhood, the individual is constantly hungry, which can lead to a number of weight-related health issues. There can be intellectual or behavioral issues, and physical characteristics often include a narrow forehead, small feet and hands, short stature, light-colored skin, and infertility. While there is no cure for this disorder, there are ample ways to manage it, including feeding tubes for newborns who are not thriving, food supervision for children to help prevent the development of obesity or type 2 diabetes, growth hormone therapies, counseling for behavioral issues, and group homes in adulthood to help with social adjustment and functioning.