What is Prader-Willi Syndrome?

PWS is a genetic disorder characterized by hypotonia in infancy, followed by hyperphagia (insatiable appetite), obesity, intellectual disability, and hypogonadism. It is caused by loss of paternal genes on chromosome 15.

Clinical Features:

Infancy:

• Severe Hypotonia ("Floppy Baby"): Poor muscle tone, weak cry, feeding difficulties
• Failure to Thrive
• Distinctive Facial Features: Narrow forehead, almond-shaped eyes, thin upper lip

Early Childhood (1-6 years):

• Hyperphagia Begins: Insatiable appetite, food-seeking behavior, lack of satiety
• Rapid Weight Gain, Obesity
• Developmental Delays, Intellectual Disability (Mild-Moderate)

Endocrine Issues:

• Hypogonadism (90%): Small genitals, delayed/incomplete puberty, infertility
• Growth Hormone Deficiency (GHD): Short stature
• Hypothyroidism
• Central Adrenal Insufficiency (some patients)
• Type 2 Diabetes: From obesity

Behavioral:

• Temper tantrums, stubbornness, obsessive-compulsive behaviors
• Food hoarding, stealing food
• Skin picking

Genetics & Diagnosis:

• Chromosome 15q11-q13 Deletion (Paternal): Most common
• Methylation Testing: Confirms diagnosis
• Clinical Diagnosis: Based on features

Treatment:

• Growth Hormone Therapy: Improves height, body composition, muscle tone; start early in childhood
• Strict Dietary Control: Calorie restriction, locked kitchen/fridge to prevent food access
• Structured Exercise Program
• Hormone Replacement: Sex hormones for hypogonadism, thyroid hormone if hypothyroid
• Behavioral Therapy: For food-seeking behaviors, OCD
• Multidisciplinary Team: Endocrinology, nutrition, psychiatry, developmental pediatrics

Prognosis:

• Lifelong condition requiring strict supervision
• Obesity-related complications (diabetes, sleep apnea, heart disease) are major causes of morbidity/mortality
• Life expectancy can be near-normal with proper management