Prader-Willi syndrome is a rare genetic disorder characterized by physical, mental, and behavioral differences. Children who have Prader-Willi syndrome often have an extremely high appetite that often leads to obesity unless a strict diet is upheld.
The signs and symptoms of Prader-Willi Syndrome can vary. The following characteristic symptoms are usually seen first in early infancy:
Beginning in early childhood through adulthood, the following features are common:
Many infants with Prader-Willi also have a characteristic facial appearance which is usually characterized by:
Prader-Willi syndrome happens when there is a change to a specific part of chromosome 15 contributed by the child’s father. Usually, it is the result of a deletion where a small part of chromosome 15 is missing, which leaves the body without a portion of the instruction manual. Some individuals with Prader-Willi syndrome have a different type of change called uniparental disomy or an imprinting center defect, which prevents the genes in this area from working normally.
Prader-Willi syndrome happens as a sporadic event in most cases. Unlike genetic conditions that are inherited from a parent, it is usually a brand-new genetic change in a child with no other affected family members. In these new cases, the condition occurs randomly and is not caused by any specific action or exposure.
Unfortunately, there is no known way to prevent Prader-Willi syndrome. However, early diagnosis and treatment can help manage the symptoms. It can also reduce complications, and improve the quality of life for individuals with the condition.
Prader-Willi syndrome is usually diagnosed with a physical examination, chromosome testing, and genetic testing.
Early diagnosis allows people with Prader-Willi syndrome to receive recommended medical management. Since there are other conditions with overlapping health problems, it is important to see a health care provider familiar with Prader-Willi syndrome for a thorough physical exam.
The diagnosis should be confirmed with a genetic test that looks closely at the chromosomes and gene expression in the Prader-Willi region of chromosome 15, called a methylation analysis. This and other confirmatory tests can determine the chance of having another child with Prader-Willi syndrome since certain rare forms have a higher chance of occurring again in a family.
After diagnosis, a personalized treatment plan is made to manage symptoms, reduce complications, and improve the quality of life for people with Prader-Willi syndrome and their families.
Treatment for this genetic condition typically involves a combination of medical, educational, nutritional, and behavioral health management guidelines such as:
CHRISTUS Children's has a monthly Prader-Willi syndrome multidisciplinary clinic based in San Antonio, Texas. If you or your child has a confirmed diagnosis of Prader-Willi, you can be referred to the clinic to receive coordinated care from our experienced specialists, including geneticists, ENT doctors, endocrinologists, pulmonologists, sleep medicine specialists, psychologists, dietitians, social workers, and speech pathologists.
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