An Outline on Rare Disorder : The Prader Willi Syndrome

Abstract

“PRADER LABHART WILLI SYNDROME” also known as Prader Willi Syndrome is an inbred genetic syndrome caused due to a lack in the expression of chromosome number 15q11.2-q13. It is followed by psychiatric, endocrinal, neurological as well as cognitive disturbances. Epidemiological data states that it is a rare syndrome affecting 1/15000-1/30000 population. Its major symptoms are hypotonia; which causes poor feeding and nourishment, hypogonadism which is characterized by underdeveloped pubertal development and gonads, adrenal insufficiency caused due to hypothalamic dysfunctions, hyperphagia and obesity caused by overeating, short stature, irresistible traits, and temper tantrums usually seen in the patients suffering from Prader Willi syndrome. Management of the syndrome by utilization of human growth hormone, continuous positive airways pressure, and Tube Feeding would help the patient in relieving the related symptoms.