Koolen de Vries syndrome
Koolen de Vries Syndrome (pronunciation: KOO-len de VREEZ syndrome), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by a variety of physical, cognitive, and behavioral abnormalities.
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 often have distinctive facial features, including a high forehead, long face, and almond-shaped eyes. They may also have physical abnormalities such as heart defects, kidney abnormalities, and skeletal anomalies.
Cognitive and behavioral features can include intellectual disability, speech and language delay, and a friendly, outgoing personality. Some individuals may also have seizures or autism spectrum disorder.
Genetics
Koolen de Vries syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 17 at a location designated q21.31. This region contains several genes, including the KANSL1 gene, which is thought to play a critical role in the development of the syndrome.
Diagnosis
Diagnosis of Koolen de Vries syndrome is based on clinical features and confirmed by genetic testing that can identify the characteristic deletion of genetic material on chromosome 17.
Treatment
There is no cure for Koolen de Vries syndrome. Treatment is symptomatic and supportive, and may include physical, occupational, and speech therapy, as well as educational services and behavioral interventions.
See also
External links
- Medical encyclopedia article on Koolen de Vries syndrome
- Wikipedia's article - Koolen de Vries syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski