Prader-Willi Syndrome

Prader-Willi Syndrome
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Synonyms
Pronounce
Specialty	Pediatrics, Medical genetics
Symptoms	Poor muscle tone, low levels of sex hormones, chronic feeling of hunger
Complications	Obesity, Type 2 diabetes, Sleep apnea
Onset	Present at birth
Duration	Lifelong
Types
Causes	Genetic abnormalities on chromosome 15
Risks	Genetic inheritance
Diagnosis	Genetic testing
Differential diagnosis
Prevention
Treatment	Hormone therapy, controlled diet, physical therapy
Medication	Growth hormone
Prognosis	Varies
Frequency	Rare
Deaths

Prader-Willi Syndrome (PWS) is a rare genetic disorder caused by the loss of function of specific genes in chromosome 15. It is characterized by a variety of physical, mental, and behavioral problems. A key feature of PWS is a constant sense of hunger that usually begins at about 2 years of age.

Symptoms and Signs

People with Prader-Willi Syndrome typically have mild to moderate intellectual disability and learning disabilities. Physical symptoms include low muscle tone, short stature, incomplete sexual development, and a chronic feeling of hunger. The excessive appetite and lack of satiety lead to chronic overeating and obesity.

Genetics

Prader-Willi Syndrome is caused by the deletion or disruption of genes on the paternal chromosome 15. The specific genes involved are typically those that control metabolic, cognitive, and behavioral functions. The genetic mechanisms that cause PWS can include deletions, uniparental disomy (UPD), or imprinting defects.

Diagnosis

Diagnosis of Prader-Willi Syndrome is based on a clinical assessment followed by genetic testing to detect abnormalities in chromosome 15. Early diagnosis is crucial for managing the symptoms and preventing complications such as obesity and type 2 diabetes.

Management

Management of PWS involves a multidisciplinary approach including hormone therapy, a controlled diet, physical therapy, and interventions to manage food-seeking behaviors. Growth hormone treatment can improve physical strength and increase height in children with PWS.

Prognosis

The prognosis for individuals with Prader-Willi Syndrome varies. With early intervention and consistent management, individuals can lead a more controlled life, although they typically require lifelong support and medical care.

See also

• Genetic disorder
• Chromosome 15 (human)
• Obesity