Rare Endocrinology News
5 Facts you should know about
Prader-Willi syndrome
1
It is typically caused by the loss of function of specific genes on chromosome 15, and it occurs in approximately 1 in every 15,000 births
2
Infants with PWS often have weak muscle tone (hypotonia), which can lead to difficulties with feeding
3
As children with PWS grow older, they develop an insatiable appetite and intense hyperphagia
4
Individuals with PWS may exhibit behavioral problems, including stubbornness, temper tantrums, obsessive-compulsive tendencies, and a tendency to hoard food
5
The disease is clinically and genetically heterogeneous - frequently it is caused by either a paternally derived 15q11-q13 deletion, maternal disomy or, very rarely, imprinting defects in the same region
Rare Endocrinology News
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