Prader-Willi Syndrome

Prader-Willi syndrome, also known as Prader-Willi-Buev syndrome, is a rare genetic disorder that affects the development and functioning of many organs and systems in the body. This hereditary disease occurs due to the deletion or loss of genes on chromosome 15 of paternal origin.

Prader-Willi syndrome occurs in one in 10,000 to 25,000 births and usually manifests as low muscle tone, slow growth, developmental and nutritional delays, impaired sense of smell, enlarged gonads, and other endocrine disorders such as thyroid deficiency or diabetes. . Children with Prader-Willi syndrome may also have learning disabilities, social adjustment problems, and behavioral problems.

Although Prader-Willi syndrome has no cure, there are treatments that can help improve patients' quality of life. Physical therapy, speech therapy, medications, and other modalities can help improve motor and communication skills and improve a patient's overall health.

Although Prader-Willi syndrome is a rare disorder, it highlights the importance of genetic testing and early detection of inherited diseases. Early detection and treatment can help patients with Prader-Willi syndrome live healthier, more fulfilling lives.

Overall, Prader-Willi syndrome is a severe genetic disorder that affects many aspects of patients' lives. However, with early detection and treatment, patients can get the help they need to improve their quality of life and achieve their potential.

Prader-Willi syndrome

Prader-Willi syndrome is a rare genetic disorder characterized by several features, such as growth retardation, intellectual disability, hypogonadism, obesity and muscle hypotonia.

This syndrome was first described in 1956 by Swiss doctors Andrea Prader and Heinrich Willi. It occurs due to the deletion of a small section of chromosome 15.

The main symptoms of Prader-Willi syndrome:

1. Stunted growth - growth significantly below average.

2. Intellectual disability - IQ is usually between 50 and 70.

3. Muscular hypotonia in infancy with subsequent development of obesity.

4. Hypogonadism is underdevelopment of the genital organs.

5. Other features are short limbs, small hands and feet, high palatine vault, delayed motor and speech development.

Treatment is mainly symptomatic and includes hormonal therapy, diet, and physical therapy. The prognosis depends on the severity of the manifestations. With adequate therapy, patients can reach adulthood.