How rare is Soto 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.

Is Sotos syndrome on the autism spectrum?

The findings from the present study demonstrate a high prevalence of autistic symptomatology within the Sotos population and suggest that the majority of individuals with Sotos syndrome display clinically significant behavioural symptomatology associated with ASD.

Is Sotos Syndrome a genetic disorder?

Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life.

Can Sotos syndrome be prevented?

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?

Prenatal microarrays are currently available that can diagnose microdeletions in the following genomic regions; Sotos (5q35), Beckwith Wiedemann (11p15), and 22q13. A prenatal microarray study may be useful if there is evidence of overgrowth with other abnormalities.

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.

What is Williams syndrome?

Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.

How is Sotos syndrome inherited?

Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent.

What is the life expectancy of someone with Sotos syndrome?

Sotos is sometimes accompanied by autism, speech impairments, and intellectual, social, and motor delays. 1. While the condition does affect children in the school years and may continue to cause problems into adulthood, it is not life threatening. Most people with Sotos have normal life expectancies. 2.

Is fetal macrosomia genetic?

LGA is usually defined as a birth weight or sonographic estimation of fetal weight above the 90th percentile. Metabolic (environmentally induced) macrosomia is distinguished from genetic or constitutional macrosomia and is defined as the growth of a fetus beyond its genetic potential.

Is Williams syndrome a form of autism?

Autism and Williams syndrome are genetically based neurodevelopmental disorders that present strikingly different social phenotypes. Autism involves fundamental impairments in social reciprocity and communication, whereas people with Williams syndrome are highly sociable and engaging.

What do you need to know about Sotos 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.

Is the Sotos gene mutated or not inherited?

Sotos syndrome is a genetic disorder caused by a mutated NSD1 gene. According to the Genetic and Rare Diseases Information Center (GARD), 95% of Sotos cases are not inherited. However, the chance of a parent with Sotos passing the condition on is 50%.

Can a child with Sotos syndrome get cancer?

Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding. A small percentage of people with Sotos syndrome have developed cancer, most often in childhood, but no single form of cancer occurs most frequently with this condition.

How does lack of NSD1 cause Sotos syndrome?

Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. However, it remains unclear exactly how a shortage of this protein during development leads to overgrowth, learning disabilities, and the other features of Sotos syndrome.