De Lange syndrome, also known as Cornelia de Lange syndrome (CdLS), is a genetic disorder that affects multiple organs and systems in the body. It is named after the Dutch pediatrician, Cornelia de Lange, who first described the syndrome in 1933.
CdLS is caused by mutations in one of several genes that are involved in regulating development before birth. The syndrome is typically diagnosed at birth or during infancy, based on a combination of physical and developmental characteristics. These include distinctive facial features, such as arched eyebrows that often meet in the middle, long eyelashes, small upturned nose, and thin lips. Other common features include slow growth, small stature, and abnormalities in the limbs, such as missing or extra fingers.
Individuals with CdLS may also have a range of medical complications affecting multiple organs and systems, including the heart, digestive tract, and respiratory system. These can include heart defects, gastrointestinal problems, and breathing difficulties. Neurological complications are also common, and may include seizures, developmental delays, and intellectual disability.
The severity of CdLS can vary widely among affected individuals, even within the same family. Some individuals may have relatively mild physical and developmental characteristics, while others may have more significant medical and developmental issues.
There is no cure for CdLS, and treatment is focused on managing symptoms and complications. Early intervention programs, such as physical therapy and speech therapy, can help improve outcomes for affected individuals. Other treatments may be necessary to manage specific medical complications, such as cardiac surgery for heart defects or feeding tubes for gastrointestinal issues.
Due to the complexity of CdLS, a multidisciplinary team approach to care is often necessary. This may involve specialists in genetics, pediatrics, neurology, cardiology, gastroenterology, and other fields, as well as social workers and other support staff. Genetic counseling may also be recommended for affected individuals and their families, to help them understand the risk of passing on the condition to future generations and to provide information about available testing options.
In conclusion, CdLS is a complex genetic disorder that affects multiple organs and systems in the body. It is named after the pediatrician Cornelia de Lange, who first described the condition in 1933. While there is no cure for CdLS, early intervention and a multidisciplinary team approach to care can help manage symptoms and improve outcomes for affected individuals.
