Koolen–De Vries syndrome
Koolen–De Vries syndrome (pronounced: Koo-len De Vreez syndrome), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by a variety of physical, neurological, and behavioral symptoms.
Etymology
The syndrome is named after Dutch geneticists David Koolen and Bert de Vries, who first described the condition in 2006. The alternative name, 17q21.31 microdeletion syndrome, refers to the specific location on chromosome 17 where a small piece of genetic material is typically missing (deleted).
Symptoms
Individuals with Koolen–De Vries syndrome may exhibit a range of symptoms, including developmental delay, intellectual disability, distinctive facial features, and various physical abnormalities. Some common symptoms include:
- Developmental delay: Most children with Koolen–De Vries syndrome have moderate to severe delays in reaching developmental milestones such as sitting, walking, and talking.
- Intellectual disability: Most individuals with this syndrome have mild to moderate intellectual disability.
- Facial dysmorphism: Distinctive facial features may include a high forehead, long face, upturned nose, and thin upper lip.
- Physical abnormalities: These can include heart defects, kidney abnormalities, and skeletal anomalies.
Diagnosis
Diagnosis of Koolen–De Vries syndrome is typically based on clinical features and confirmed by genetic testing, specifically a test called microarray analysis that can identify the characteristic deletion on chromosome 17.
Treatment
There is currently no cure for Koolen–De Vries syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, educational support, and management of any physical abnormalities.
See also
References
External links
- Medical encyclopedia article on Koolen–De Vries syndrome
- Wikipedia's article - Koolen–De Vries syndrome
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