Cornelia de Lange syndrome
Cornelia de Lange Syndrome (pronunciation: kor-NEE-lee-uh duh LAHNG) is a rare genetic disorder that affects the physical and cognitive development of an individual.
Etymology
The syndrome is named after the Dutch pediatrician, Cornelia de Lange, who first described it in 1933.
Symptoms
The symptoms of Cornelia de Lange Syndrome can vary widely among individuals. Common symptoms include distinctive facial features such as synophrys (meeting of the eyebrows in the middle), long eyelashes, low-set ears, and a small, upturned nose. Other symptoms may include growth retardation, intellectual disability, upper limb abnormalities, and various other physical abnormalities.
Causes
Cornelia de Lange Syndrome is caused by mutations in several genes, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. These genes are involved in the regulation of gene expression, and their mutation leads to the various symptoms of the syndrome.
Diagnosis
Diagnosis of Cornelia de Lange Syndrome is based on clinical features. Genetic testing can confirm the diagnosis and identify the specific gene mutation.
Treatment
There is no cure for Cornelia de Lange Syndrome. Treatment is supportive and based on the individual's specific symptoms. This may include physical therapy, speech therapy, educational support, and various medical treatments for physical symptoms.
Prognosis
The prognosis for individuals with Cornelia de Lange Syndrome varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives.
See also
External links
- Medical encyclopedia article on Cornelia de Lange syndrome
- Wikipedia's article - Cornelia de Lange 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