What is Cornelia De Lange Syndrome?

Cornelia de Lange syndrome, named for the Dutch physician who identified it in the 1930s, is a genetic disorder associated with developmental delays, intellectual disabilities, and physical anomalies. It can vary in severity, depending on the pattern of genes expressed in the patient. Patients with this condition require lifelong support and treatment to address various issues caused by the disorder, and may achieve varying degrees of independence depending on how the condition manifests.

This congenital disorder occurs as a result of spontaneous mutations and often there is no family history of this or similar disorders. People with Cornelia de Lange syndrome can have errors at multiple chromosomes, including the fifth chromosome and the X chromosome. It is a dominant condition, requiring only one copy of a defective gene to express. Genetic expression of Cornelia de Lange syndrome is very diverse as a result of interactions between various genes, as well as different patterns of defective genes seen in patients with this condition.

Babies with this condition usually have a low birth weight, and they may experience developmental delays. Physical anomalies like missing limbs, small hands and feet, cleft palate, and an unusually small head may be observed. Patients can also have heart conditions and intestinal problems, and these may be identified shortly after birth. As people with Cornelia de Lange syndrome grow up, they remain smaller than other family members, and can develop hearing and vision problems, gastroesophageal reflux disease, and feeding problems.

Like other syndromes, this condition involves a host of characteristics. Every patient presents slightly differently and diagnosis involves careful evaluation to rule out similar conditions, sometimes accompanied with genetic testing. Treatment revolves around providing support to address specific issues, like hearing aids for hearing problems, or the use of an aide to help a student with intellectual disabilities.

Some people with this condition have mild to moderate impairments and may be relatively independent. People with more severe impairments tend to require more supportive care. They may need full-time aides and can spend a lot of time in the hospital dealing with various medical issues caused by Cornelia de Lange syndrome. Parents who do not have this condition should not worry about passing the gene on to their children, as it arises as a random mutation and it is unlikely that the condition will recur in future pregnancies. People with this condition who are interested in having children may want to meet with a genetic counselor to discuss their options.