Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.

[3] In order to contract Roberts syndrome, a child must inherit the defective gene in an autosomal recessive manner.

The odd number of chromosomes causes the defective cells to die, which leads to the malformations associated with Roberts syndrome.

In 1995, Hugo Vega and Miriam Gordillo, two Colombian geneticists, set out to fully understand Roberts syndrome.

Vega and Gordillo noticed an unusually high number of Roberts syndrome patients at the Universidad Nacional de Colombia.

[5] A clinical diagnosis of Roberts syndrome is made in individuals with characteristic prenatal growth retardation, limb malformations, and craniofacial abnormalities.

[citation needed] An official diagnosis of Roberts syndrome relies on cytogenetic testing of the peripheral blood.

The first chromosomal abnormality is called premature centromere separation (PCS) and is the most likely pathogenic mechanism for Roberts syndrome.

Chromosomes with these two abnormalities will display a "railroad track" appearance because of the absence of primary constriction and repulsion at the heterochromatic regions.

A prenatal diagnosis of Roberts syndrome requires an ultrasound examination paired with cytogenetic testing or prior identification of the disease-causing ESCO2 mutations in the family.

Roberts reported a disease that was characterized by phocomelia, cleft lip, cleft palate, and a protrusion of the intermaxillary region in three siblings of an Italian couple who were first cousins, which made Roberts syndrome acquisition more likely for their children due to the disease's autosomal recessive nature.

[citation needed] The following is a list of all the alternate names that have been used for Roberts Syndrome: Chromosome+disorders at the U.S. National Library of Medicine Medical Subject Headings (MeSH)