Prader-Willi syndrome is an inherited disorder characterized by:
- Obesity
- Hypotonia
- Hypogonadism
- Short stature
- Mental retardation
Ironically, despite being characterized by obesity, babies with Prader-Willi have feeding problems and fail to thrive in infancy.
The classical phenotype of a patient with Prader-Willi Syndrome is:
- Obese
- Short stature
- Almond-shaped eyes
- Narrow bifrontal diameter
- Downturned angles of the mouth
- Small hands and feet
- Straight ulnar border of hands
Prader-Willi Syndrome is caused by a deletion/disruption of gene(s) on chromosome 15.
Diagnosis is by genetic analysis.
Management
- Strict control of food intake
- Growth hormone replacement
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