De Lange Syndrome, also known as Cornelia de Lange Syndrome (CdLS), is a rare genetic disorder characterized by a wide range of physical, cognitive, and developmental abnormalities. It is named after the Dutch pediatrician, Cornelia de Lange, who first described the syndrome in 1933.
Individuals with De Lange Syndrome typically exhibit distinctive facial features, such as arched eyebrows, long eyelashes, thin lips, and a small upturned nose. They may also have growth deficiencies, including short stature and small hands and feet. Other physical manifestations can include heart defects, hearing loss, gastrointestinal issues, and skeletal abnormalities.
Cognitive development is a significant aspect affected by De Lange Syndrome, ranging from mild to severe intellectual disabilities. Language and speech delays, as well as social and communication difficulties, are commonly observed. Behavioral challenges, such as repetitive movements, self-injurious actions, and hyperactivity, may also be present.
The cause of De Lange Syndrome is primarily attributed to mutations in specific genes responsible for the proper development and maintenance of cells. Genetic counseling and testing can help diagnose the syndrome, though the severity and specific symptoms may widely vary amongst individuals. Early intervention with various therapies, such as speech and occupational therapy, can be beneficial in supporting the development and functional abilities of individuals with De Lange Syndrome.
Overall, De Lange Syndrome is a complex disorder that affects multiple systems and requires a multidisciplinary approach for management and care. Research advancements continue to enhance our understanding of the syndrome and improve the quality of life for individuals and their families.
