What is Pallister-Killian's syndrome?

Pallister-Killian syndrome, also referred to as PKS, is a rare genetic disorder that causes a number of symptoms, including developmental delays, abnormal skin pigmentation and many other congenital defects. Chromosomal abnormality is a direct cause of Pallister-Killian syndrome, although the reason for this abnormality is not scientifically understood. Specific symptoms associated with this condition differ considerably and can move from mild to seriously debilitating. No standard therapeutic methods are available to treat this syndrome and the treatment is focused on individualized treatment for specific symptoms. Any questions or concerns about the Pallister-Killian syndrome should be discussed with a doctor or other doctor.

Although Pallister-Killian syndrome is considered a genetic chromosomal disorder, it is not a inherited state. Instead, this syndrome seems to be randomly. Many cases of PK can be detected by a prenatal test of the knvoje as amniocentesis, although the test procedure is not always accurate and someRé cases can be undiagnosed due to a false negative outcome.

There are many possible symptoms associated with Pallister-Killian Syndrome, although a child born with this condition is unlikely to experience all these symptoms. Most children 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 child's ability to learn to sit, crawl or walk. Less than half of the people affected by this disorder are able to walk without adulthood.

those who were born with the Pallister-Killian syndrome usually have very strong facial features, including eyes, which are placed further apart from each other than the usual, enlarged tongue and cleft palate. Intellectual delays are also common, and the vast majority of monuments are never able to talk to this condition. On the heads of those with PKS is often velMi little hair, although bald stains are filled in some patients as they age.

The most serious cases of Pallister-Killian syndrome may be potentially fatal and many who were born with serious complications will not survive childhood. These potentially life -threatening complications include heart defects and seizure disorders. A significant number of children with PKS are born with a condition known as a congenital membrane hernia, a disorder that causes part of the intestines protruding through the hole in the diaphragm. Surgical intervention may be used to treat some of these symptoms depending on the patient's overall health.