Definition
Prader-Willi syndrome is a genetic disease characterized by hypotonic infantile period, obesity due to hyperphagia, short stature, hypogonadism and learning difficulties.
Symptoms
- Severe hypotonia and feeding difficulties in infancy
- Excessive appetite and obesity in childhood
- Short stature, small hands and feet
- Behavioral problems
Reasons
Deletion of paternal genes in the q11-q13 region of chromosome 15, or uniparental disomy.
Diagnosis
Clinical criteria, methylation test.
Treatment
Growth hormone therapy, behavioral therapy, strict dietary control.
Which Polyclinic Should You Apply To?
Pediatric Endocrinology Polyclinic or Genetics Polyclinic
What to Do in an Emergency?
In case of respiratory distress due to obesity or diabetic ketoacidosis, the emergency room should be consulted.
This page is for general information purposes only.