Warkany syndrome 1
Warkany Syndrome 1
Warkany Syndrome 1 (pronounced: wahr-KAH-nee SIN-drome), also known as Trisomy 8 Mosaicism Syndrome, is a rare genetic disorder characterized by multiple abnormalities in various parts of the body. The syndrome is named after Joseph Warkany, a prominent pediatrician and researcher who first described the condition in 1971.
Etymology
The term "Warkany Syndrome 1" is derived from the name of Joseph Warkany, who was the first to describe the condition. The "1" in the name indicates that this was the first syndrome identified by Warkany. The term "Trisomy 8 Mosaicism" refers to the genetic cause of the syndrome, which involves a third copy (trisomy) of chromosome 8 in some (mosaic) cells of the body.
Symptoms
The symptoms of Warkany Syndrome 1 can vary widely among affected individuals. Common symptoms include growth retardation, intellectual disability, and various physical abnormalities such as microcephaly (small head size), hypotonia (low muscle tone), and dysmorphic facial features. Other possible symptoms include heart defects, kidney abnormalities, and skeletal anomalies.
Diagnosis
Diagnosis of Warkany Syndrome 1 is typically based on clinical findings and confirmed by genetic testing. The testing usually involves a procedure called karyotyping, which can identify the presence of an extra chromosome 8 in the cells.
Treatment
There is currently no cure for Warkany Syndrome 1. Treatment is symptomatic and supportive, and may include physical therapy, special education, and management of specific symptoms such as heart defects or kidney abnormalities.
Prognosis
The prognosis for individuals with Warkany Syndrome 1 can vary widely, depending on the severity of symptoms and the presence of other health conditions. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the syndrome.
See also
External links
- Medical encyclopedia article on Warkany syndrome 1
- Wikipedia's article - Warkany syndrome 1
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