Pallister-Killian syndrome is a rare genetic disorder causing developmental delays, abnormal skin pigmentation, and other birth defects. It is not inherited and caused by chromosomal abnormality. Symptoms vary and treatment is focused on individualized care. It can be detected by prenatal testing, and severe cases can be life-threatening.
Pallister-Killian syndrome, also known as PKS, is a rare genetic disorder that causes a variety of symptoms, including developmental delays, abnormal skin pigmentation, and a variety of other 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. No standard treatment methods are 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 a genetic chromosomal disorder, it is not an inherited condition. Instead, this syndrome appears to appear randomly. Many cases of PKS can be detected by a prenatal test known as an amniocentesis, although the test procedure is not always accurate and some cases may go undiagnosed due to a false negative result.
There are many possible symptoms associated with Pallister-Killian syndrome, although a child born with the condition will not likely experience all of these symptoms. Most children born with PKS have very weak muscle tone, a condition known as hypotonia. This muscle weakness often causes developmental delays that affect a child’s ability to learn to sit, crawl, or walk. Fewer than half of people with this disorder are able to walk unassisted by adulthood.
Those born with Pallister-Killian syndrome usually have very distinctive facial features, including eyes that are further apart than normal, an enlarged tongue, and a cleft palate. Intellectual delays are also common, and the vast majority of patients with this condition are never able to speak. There is often very little hair on the head of those with PKS, although bald spots fill in on some patients as they get older.
More severe cases of Pallister-Killian syndrome can be life-threatening, and many who are born with severe 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 part of the intestine to leak through a hole in the diaphragm. Surgery may be used to treat some of these symptoms, depending on the patient’s overall health.
Protect your devices with Threat Protection by NordVPN
