What is Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome

Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome is a rare genetic disorder caused by a small deletion in a specific region of chromosome 17, known as 17q21.31. This syndrome is characterized by a range of physical, developmental, and intellectual disabilities.

Individuals with Koolen De Vries Syndrome may exhibit distinctive facial features, such as a high forehead, wide-set eyes, and a broad nasal bridge. They may also experience developmental delays, including delayed speech and motor skills. Intellectual disability is common, ranging from mild to severe.

Other common features of this syndrome include low muscle tone, feeding difficulties in infancy, heart defects, and skeletal abnormalities. Additionally, individuals may have behavioral issues, such as autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), or anxiety.

Diagnosis of Koolen De Vries Syndrome is typically confirmed through genetic testing, specifically identifying the microdeletion on chromosome 17. Management involves a multidisciplinary approach, including early intervention programs, speech therapy, physical therapy, and educational support.

It is important for individuals with Koolen De Vries Syndrome to receive comprehensive medical care and support to optimize their quality of life.