What is the prevalence of Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome?
How many people does Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome is a rare genetic disorder caused by a deletion in the 17q21.31 region of chromosome 17. It is characterized by developmental delay, intellectual disability, distinctive facial features, and various other physical and neurological abnormalities. The prevalence of this syndrome is estimated to be around 1 in 16,000 to 1 in 25,000 individuals. Although it is considered rare, it is important to raise awareness and provide support for individuals and families affected by this condition.
Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome Prevalence:
Koolen De Vries Syndrome, also known as 17q21.31 Microdeletion Syndrome, is a rare genetic disorder caused by a deletion of a small piece of chromosome 17. The prevalence of this syndrome is estimated to be around 1 in 16,000 to 1 in 30,000 individuals.
Although considered rare, it is important to note that the prevalence may vary across different populations and regions. The syndrome affects both males and females equally.
Individuals with Koolen De Vries Syndrome may experience a range of symptoms including intellectual disability, developmental delays, characteristic facial features, heart defects, and other medical issues. However, it is important to remember that each individual may present with a unique combination and severity of symptoms.
Early diagnosis and intervention are crucial in managing the syndrome and providing appropriate support and care for affected individuals and their families. Genetic testing is typically required to confirm the presence of the 17q21.31 microdeletion.
Disclaimer: This information is provided for educational purposes only and should not be used as a substitute for professional medical advice. If you suspect you or someone you know may have Koolen De Vries Syndrome, please consult with a qualified healthcare professional for proper diagnosis and guidance.
