What is the prevalence of Potocki-Lupski syndrome?
How many people does Potocki-Lupski syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Potocki-Lupski syndrome is a rare genetic disorder caused by a duplication of a specific region of chromosome 17. It is characterized by developmental delay, intellectual disability, autism spectrum disorder, and various physical features. The prevalence of this syndrome is estimated to be around 1 in 20,000 to 1 in 25,000 individuals. Although it is considered a rare condition, it is important to raise awareness and provide support for individuals and families affected by Potocki-Lupski syndrome.
Potocki-Lupski syndrome is a rare genetic disorder characterized by the duplication of a specific region of DNA on chromosome 17. It was first identified in 2007 and since then, the prevalence of this syndrome has been estimated based on limited data.
According to available studies, the prevalence of Potocki-Lupski syndrome is believed to be extremely rare. It is estimated to affect less than 1 in 20,000 individuals in the general population. However, it is important to note that these estimates may not be entirely accurate due to the limited number of reported cases and potential underdiagnosis.
Individuals with Potocki-Lupski syndrome typically exhibit developmental delays, intellectual disability, autism spectrum disorder, and distinctive facial features. They may also experience medical issues such as heart defects, hypotonia, and sleep disturbances.
As with any rare disorder, early diagnosis and appropriate management are crucial in providing individuals with Potocki-Lupski syndrome the necessary support and interventions to optimize their quality of life.
