What is Pallister Killian Mosaic Syndrome?

What does Pallister-Killian Syndrome do?

Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone ( hypotonia ) in infancy and early childhood, intellectual disability , distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects .

Is Pallister-Killian Syndrome fatal?

The signs and symptoms of Pallister-Killian mosaic syndrome vary, although most people with this disorder have severe to profound intellectual disability and other serious health problems. The most severe cases involve birth defects that are life-threatening in early infancy.

How common is Pallister-Killian mosaic syndrome?

Pallister-Killian syndrome (PKS) is an extremely rare genetic disorder that is present at birth. The prevalence has been estimated to be 1 in 20,000; however, it is likely that PKS is underdiagnosed due to the difficulty of making a cytogenetic diagnosis from a blood test.

What is PKS in kids?

Pallister-Killian syndrome (PKS) is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.

What is Donnai Barrow syndrome?

Donnai-Barrow syndrome (DBS) is characterized by typical craniofacial features (large anterior fontanelle, wide metopic suture, widow’s peak, markedly widely spaced eyes, enlarged globes, downslanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge, and short nose.

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What is the life expectancy of someone with Prader Willi syndrome?

The age of mortality was noted for 425 subjects with an average of 29.5 ± 16 years and ranged between 2 months and 67 years and significantly lower among males (28 ±16 years) compared with females (32 ±15 years) (F=6.5, p<0.01).

Can you look normal and have Down syndrome?

Misconception: People with Down syndrome all look alike.

For example, many but not all people with Down syndrome have almond-shaped eyes and a short stature. However, like typical people who share similar features, they look more like their families than each other.

Can someone with Down syndrome have normal intelligence?

I.Q. scores for people with Down syndrome vary, with the average cognitive delays being mild to moderate, not severe. In fact, normal intelligence is possible.

What is genetic mosaicism and how does it arise?

Mosaicism occurs when a person has two or more genetically different sets of cells in his or her body. If those abnormal cells begin to outnumber the normal cells, it can lead to disease that can be traced from the cellular level to affected tissue, like skin, the brain, or other organs.