How common is Sotos syndrome?
Frequency. Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000.
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.
What is another name for Sotos syndrome?
Sotos syndrome, also known as cerebral gigantism, is a rare genetic condition that causes children to grow faster than other children their age. Characteristics of Sotos syndrome include: Tall stature. Large head with distinct facial features.
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. Sotos syndrome usually isn’t life-threatening.
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.
What is reverse Sotos syndrome?
Sotos syndrome is a disorder of childhood overgrowth caused by NSD1 deletions. Duplications involving NSD1 cause a ‘reverse Sotos syndrome’ phenotype characterised by short stature and microcephaly. The contrasting phenotypes of NSD1 deletions and duplications suggest a dose effect.
Is Soto syndrome hereditary?
Sotos syndrome is usually caused by a genetic change in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new genetic change in the affected person and occur sporadically (are not inherited).