Cornelia de Lange
Cornelia de Lange Syndrome (pronounced kɔːrˈniːliə də ˈlɑːŋə) is a rare genetic disorder that is present from birth. It is named after the Dutch pediatrician Cornelia de Lange, who first described it in 1933.
Etymology
The syndrome is named after Cornelia de Lange, a Dutch pediatrician who first described the condition in 1933. The term "syndrome" comes from the Greek word "σύνδρομον" (sýndromon), meaning "concurrence of symptoms," or "concurrence of diseases."
Symptoms
Individuals with Cornelia de Lange Syndrome may exhibit a range of physical and cognitive symptoms. These can include distinctive facial features, growth delays, intellectual disability, and limb abnormalities. Other symptoms may include gastroesophageal reflux disease (GERD), seizures, heart defects, and hearing loss.
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 mutations can disrupt normal development.
Diagnosis
Diagnosis of Cornelia de Lange Syndrome is typically based on physical characteristics and may be confirmed with genetic testing. However, due to the wide range of symptoms, diagnosis can be challenging.
Treatment
There is currently no cure for Cornelia de Lange Syndrome. Treatment is focused on managing symptoms and may include physical therapy, speech therapy, educational support, and medical management of health complications.
See also
External links
- Medical encyclopedia article on Cornelia de Lange
- Wikipedia's article - Cornelia de Lange
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