Learn About Roberts Syndrome

What is the definition of Roberts Syndrome?

Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals also grow slowly before and after birth. Mild to severe intellectual impairment occurs in about half of all people with Roberts syndrome.

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What are the causes of Roberts Syndrome?

Mutations in the ESCO2 gene cause Roberts syndrome. This gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The ESCO2 protein plays an important role in establishing the glue that holds the sister chromatids together until the chromosomes are ready to separate.

How prevalent is Roberts Syndrome?

Roberts syndrome is a rare disorder. Its prevalence is unknown.

Is Roberts Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Who are the sources who wrote this article ?

Published Date: March 01, 2019Published By: National Institutes of Health

What are the Latest Advances for Roberts Syndrome?
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Summary: Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
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