Roberts syndrome
pseudothalidomide syndrome
Appelt-Gerken-Lenz syndrome

Carriers are also not at risk for contracting Roberts syndrome themselves.

Little is known about the natural history of Roberts syndrome due to its wide clinical variability.

The following is a list of symptoms that have been associated with Roberts syndrome:

Roberts syndrome is an extremely rare condition that only affects about 150 reported individuals.

Other common findings of cytogenetic testing on Roberts syndrome patients are listed below.

Roberts syndrome can affect both males and females.

However, in Roberts syndrome cell division, the copies are frequently not attached at the centromere.

The frequency of Roberts syndrome carriers is unknown.

Carrier testing for Roberts syndrome requires prior identification of the disease-causing mutation in the family.

The cause of death for most fatalities of Roberts syndrome have not been reported; however, five deaths were reportedly due to infection.

An official diagnosis of Roberts syndrome relies on cytogenetic testing of the peripheral blood.

For this reason, Roberts syndrome is sometimes called Pseudothalidomide Syndrome.

Treatment of Roberts syndrome is individualized and specifically aimed at improving the quality of life for those afflicted with the disorder.

Donnie has a genetic disease, Roberts syndrome, while Scottie has a kidney disorder.

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

Mutations in the ESCO2 gene are associated with Roberts syndrome.

The ESCO2 gene has a specific effect on cell division in Roberts syndrome patients.

Roberts syndrome.

ESCO2, located on human chromosome 8, has been labeled as the gene responsible for Roberts syndrome.

At this point in time, ESCO2 is the only known gene to cause Roberts syndrome mutations.

The Italian couple were first cousins, which made Roberts syndrome acquisition more likely for their children due to the diseases autosomal recessive nature.

Later, in 1969, J. Herrmann described another syndrome with very similar characteristics to Roberts syndrome.

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

Many of the physical malformations associated with Roberts syndrome are very similar to the malformations that occur in children whose mothers took thalidomide during pregnancy.

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

For this reason, Roberts syndrome is sometimes called Pseudothalidomide Syndrome.

Today, Roberts syndrome and Pseudothalidomide Syndrome (SC Syndrome) are considered to be the same disorder.

Herrmann would call the disorder Pseudothalidomide Syndrome or SC Syndrome (SC was for the initials of the surnames of the two families that Herrmann studied).

Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare 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.