Cornelia de Lange

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that is present from birth. It is characterized by a range of physical, cognitive and medical challenges and affects both males and females. The syndrome is named after the Dutch pediatrician Cornelia Catharina de Lange, who first described it in 1933.

Symptoms

The symptoms of CdLS can vary widely in severity and may include physical abnormalities, intellectual disability, and behavioral problems. Some of the most common physical characteristics include low birth weight, slow growth, small stature, and small head size. Other physical signs can include abnormalities of the bones in the arms, hands, and fingers, and distinctive facial features such as arched eyebrows, long eyelashes, a short nose, and a small, widely spaced teeth.

Causes

CdLS is caused by mutations in several genes, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. These genes provide instructions for making proteins that are involved in the regulation of gene expression. The mutations disrupt the normal development of many parts of the body.

Diagnosis

The diagnosis of CdLS is usually based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

There is no cure for CdLS, but treatment can help manage the symptoms. This may include physical therapy, occupational therapy, speech therapy, educational services, and other support services.

Prognosis

The prognosis for individuals with CdLS varies. Some individuals may have a normal lifespan, while others may have life-threatening complications.

See also

• Genetic disorders
• Rare diseases

References

Cornelia de Lange Resources
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