Children's Hospital Colorado

CDKL5 Deficiency Disorder (CDD)

What is CDKL5 deficiency disorder (CDD)?

CDD is a neurological and developmental disorder that affects boys and girls. Symptoms of CDD usually begin in infancy with repeated seizures (epilepsy), often in the second month of life. Children with CDD often have a special type of epilepsy called spasms that are difficult to treat with medicine. They also have delayed development, intellectual disability and difficulty walking and sitting. Many children have difficulty seeing, a condition called cortical visual impairment.

What causes CDD?

CDD involves a change or misspelling in a gene called the CDKL5 gene, which occurs on the X chromosome. Even though this is a genetic disorder, the change on the gene is new to the patient and not inherited from parents. In other words, a new spelling mistake happened around the time the egg and sperm came together. This is not caused by something the parents did or didn't do.

Who gets CDD?

CDD syndrome is a genetic disorder. It happens in 1 out of 41,000 births. It affects boys and girls.