What is Pallister Killian syndrome?
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 .
What is Weaver syndrome?
Weaver syndrome is a condition that involves tall stature with or without a large head size (macrocephaly ), a variable degree of intellectual disability (usually mild), and characteristic facial features.
What is Mosaic Syndrome?
Mosaic Turner syndrome (TS) is a condition in which cells inside the same person have different chromosome packages. Mosaic TS can affect any cell in the body. Some cells have X chromosomes and some don’t.
How many people in the world have Pallister-Killian Syndrome?
What is Pallister-Killian 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 cat eye syndrome?
The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals. This defect, known as a coloboma, usually appears as a cleft or gap in the iris below the pupil, and the elongated pupil therefore resembles the appearance of a cat’s eye.
What is PKS in kids?
The PKS Kids is a voluntary, non-profit organization whose mission is to promote research, provide education and raise awareness within the medical community in order to ensure early diagnosis of children with Pallister-Killian Syndrome (PKS).
Is Sotos Syndrome a disability?
People with Sotos syndrome often have intellectual disability, and most also have behavioral problems.
What is the life expectancy of someone with Sotos syndrome?
Sotos syndrome is not a life-threatening disorder and patients may have a normal life expectancy. The initial abnormalities of Sotos syndrome usually resolve as the growth rate becomes normal after the first few years of life.
Can Sotos syndrome be prevented?
Sotos syndrome causes overgrowth during the early years of a child’s life. Children with Sotos syndrome may have several health problems and require ongoing care. There’s no cure for this genetic disorder, but some of the symptoms can be treated.
Is Sotos syndrome genetic?
Sotos syndrome is an autosomal dominant genetic condition. Dominant genetic disorders occur when only a single copy of an abnormal variant of a gene is necessary to cause a particular disease.
Can Sotos syndrome be detected before birth?
If there is an affected member of the family, a mutation in a proband should be identified before prenatal diagnosis is performed. However, more than 95% of cases of Sotos syndrome are secondary to a de novo mutation, so this is only possible in a very small percentage of cases.
Is Sotos syndrome autism?
Most people with Sotos syndrome show signs of autism, according to the largest-yet study of people with the rare genetic condition1. Sotos syndrome affects about 1 in 14,000 people.