Prader-Willi Syndrome
Full Form of PWS
What is PWS?
Prader-Willi Syndrome, commonly abbreviated as PWS, is a rare genetic disorder that affects multiple systems in the body. It is caused by the loss of function of specific paternal genes on chromosome 15, usually due to a microdeletion or maternal uniparental disomy. The condition is characterized by hypotonia during infancy, hyperphagia leading to severe obesity, intellectual disability, short stature, hypogonadism, and distinctive behavioral issues. In India, awareness about PWS remains limited, though organisations like the Prader-Willi Syndrome Association of India are working to support affected families and spread knowledge. Pediatricians and geneticists across major Indian hospitals diagnose and manage this condition using genetic testing methods including methylation analysis, FISH, and chromosomal microarray. Treatment involves a multidisciplinary approach including growth hormone therapy, dietary management, behavioural interventions, and special education support. PWS is a frequently tested topic in medical entrance examinations such as NEET PG, AIIMS, and other competitive exams where chromosomal disorders and clinical genetics form an important part of the syllabus. Early diagnosis and consistent management can significantly improve outcomes for individuals living with this condition.
PWS का फुल फॉर्म
प्रैडर-विली सिंड्रोम
Example
The genetic counsellor explained to the parents that their child's symptoms were consistent with Prader-Willi Syndrome and recommended immediate methylation testing.