What kind of inheritance pattern is seen with Sotos syndrome?

A few families have been described with more than one affected family member. These cases helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.

When is Sotos syndrome diagnosed?

Sotos syndrome is a genetic disorder caused by a mutation of the NSD1 gene. The two main symptoms of Sotos syndrome are overgrowth and intellectual disability. It is often diagnosed in infancy or early childhood. Once growth stops, adults with Sotos can maintain normal height and weight, and even intellect.

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 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.

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.

Is the NSD1 gene responsible for Sotos syndrome?

The literature on Sotos syndrome, before the identification of the NSD1 gene responsibility, has to be read carefully since it is mixed with publications that evidently do not deal with the Sotos syndrome. For forty years, the diagnosis of Sotos syndrome has been based on the subjective evaluation of clinical features.

Are there congenital heart defects in Sotos syndrome?

Clinical description. Finger nails are usually deep and brittle. The incidence of congenital heart defects in Sotos syndrome is approximately 8% in the series of Cole and Hughes [ 3 ], but 21% in the series of Tatton-Brown [ 10 ]. The most common defects are septal defects and patent arterial duct.