What is the life expectancy of someone with Sotos syndrome?
Sotos syndrome is a lifelong condition and there is no cure. The condition often times does not have any life-threatening side effects and the outlook for a child diagnosed with Sotos syndrome is positive, with a normal life expectancy.
What causes Soto syndrome?
Causes. Sotos syndrome is caused by mutations (abnormalities) in the NSD1 (nuclear receptor-binding SET domain protein 1) gene. Mutations in this gene have been identified in approximately 90% of affected patients (Sotos syndrome 1).
Does Sotos syndrome go away?
Treatment is symptomatic. 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.
When is Sotos syndrome diagnosed?
Diagnosis. A Sotos syndrome diagnosis is made early in life, either in infancy or in the first few years of life. Newborn testing does not include testing for Sotos, but doctors will test for it when symptoms are noticed. It may take months or years for testing to occur and for symptoms to be pronounced.
How common is Sotos syndrome?
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.
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 are the symptoms of Soto syndrome?
Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
Is Sotos syndrome a disability?
People with Sotos syndrome often have intellectual disability, and most also have behavioral problems.
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.
How rare is Soto 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.
How rare is Sotos syndrome?
Why is it called Alexander disease?
Accordingly, it is more appropriate to consider Alexander disease a disease of astrocytes (an astrogliopathy) than a white matter disease (leukodystrophy). Alexander disease is named after the physician who first described the condition in 1949 (WS Alexander).
What is Sotos-Dodge syndrome?
Sotos syndrome (cerebral gigantism or Sotos-Dodge syndrome) is a rare genetic disorder characterized by excessive physical growth during the first years of life.
What is the cause of Sotos syndrome?
Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified. The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase.
What are the facial features of Sotos syndrome?
Summary Summary. Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures.
Is there a cure for Sotos syndrome?
It is generally managed with a variety of therapies, including behavioral and speech therapies, as needed. There is no cure for Sotos syndrome. Further, there is no specific one treatment for Sotos. Treatment usually involves managing symptoms and correcting problems that can be corrected.