What Causes Cornelia de Lange Syndrome?

Cornelia de Lange syndrome is a genetic disorder caused by mutations in at least five genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A). The severity of the disease can vary greatly depending on the type of mutation and the affected gene. More than half of people with CdLS have a mutation in the NIPBL gene. It is also associated with more serious illnesses.

Cornelia de Lange syndrome is rarely inherited. Instead, it usually occurs sporadically without a family history of the disease. This occurs due to de novo or new mutations. Many small children are infected with this disease, Vihaan is one such child who needs donations. If you wish to donate, please visit this link.

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The HDAC8 and SMC1A genes are located on one of the gender chromosomes, primarily the X chromosome. Only one copy of the mutated gene is required to cause the disorder and affect both females and males. This is different from many other X-linked diseases that mainly affect men. The NIPBL, RAD21, and SMC3 genes are located on autosomes, and only one copy of the mutated gene is required to cause the disorder.

Five genes associated with CdLS produce proteins involved in prenatal development. More specifically, proteins are responsible for controlling the development of the face, limbs, and other body parts.

To diagnose CdLS, your doctor will review your child's medical history and perform a physical exam. Your doctor may also order genetic testing to test for specific mutations in the five genes associated with CdLS (NIPBL, RAD21, SMC3, HDAC8, and SMC1A) and other genes of interest.