What Is Pallister-Killian Syndrome?

Pallister-Killian syndrome, also referred to as PKS, is a rare genetic disorder that causes a variety of symptoms, including developmental delays, abnormal skin pigmentation, and a variety of additional birth defects. A chromosomal abnormality is the direct cause of Pallister-Killian syndrome, although the reason for this abnormality is not scientifically understood. The specific symptoms associated with this condition vary greatly and can range from mild to severely debilitating. There are no standard treatment methods available to treat this syndrome, and management is focused on individualized treatment of specific symptoms. Any questions or concerns about Pallister-Killian syndrome should be discussed with a doctor or other medical professional.

Although Pallister-Killian syndrome is considered to be a genetic chromosomal disorder, it is not an inherited condition. Instead, this syndrome just seems to randomly appear. Many cases of PKS can be detected by a prenatal test known as amniocentesis, although the testing procedure is not always accurate, and some cases may be undiagnosed due to a false negative result.

There are many possible symptoms associated with Pallister-Killian syndrome, although a child born with this condition will not likely experience all of these symptoms. The majority of babies born with PKS have a very weak degree of muscle tone, a condition known as hypotonia. This muscle weakness often causes developmental delays that affect the ability of the child to learn to sit, crawl, or walk. Less than half of the people affected by this disorder are able to walk without assistance by adulthood.

Those born with Pallister-Killian syndrome usually have very distinctive facial features, including eyes that are spaced farther apart than normal, an enlarged tongue, and a cleft palate. Intellectual delays are also common, and a large majority of patients with this condition are never able to talk. There is often very little hair on the heads of those with PKS, although the bald spots do fill in on some patients as they get older.

The most severe cases of Pallister-Killian syndrome can be potentially fatal, and many who are born with serious complications do not survive infancy. Heart defects and seizure disorders are among these potentially life-threatening complications. A significant number of babies with PKS are born with a condition known as congenital diaphragmatic hernia, a disorder that causes a portion of the intestines to protrude through a hole in the diaphragm. Surgical intervention may be used to treat some of these symptoms, depending on the overall health of the patient.