Roberts syndrome

Roberts syndrome (pronounced: /ˈrɒbərts sɪnˈdroʊm/), also known as Pseudothalidomide or SC phocomelia syndrome, is a rare genetic disorder characterized by growth retardation, craniofacial abnormalities, and limb malformations. The syndrome is named after John Bingham Roberts, a prominent American surgeon who first described the condition in 1919.

Etymology

The term "Roberts syndrome" is derived from the name of the surgeon who first identified the condition. The term "pseudothalidomide" is derived from the Greek word "pseudo", meaning false, and "thalidomide", a drug known to cause similar limb malformations. The term "SC phocomelia syndrome" is derived from the initial letters of the surnames of the two families (S and C) in which the condition was first identified, and "phocomelia", a term for a specific type of limb malformation.

Symptoms

Roberts syndrome is characterized by pre- and postnatal growth retardation, severe malformations of the limbs, and craniofacial abnormalities such as cleft lip and palate, micrognathia (small lower jaw), and hypertelorism (widely spaced eyes). Other symptoms may include heart defects, kidney abnormalities, and mental retardation.

Genetics

Roberts syndrome is caused by mutations in the ESCO2 gene. This gene provides instructions for making an enzyme that is involved in the regulation of the structure and function of chromosomes. Mutations in the ESCO2 gene disrupt the normal development of cells, leading to the characteristic features of Roberts syndrome.

Diagnosis

Diagnosis of Roberts syndrome is based on the characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the ESCO2 gene.

Treatment

There is no cure for Roberts syndrome. Treatment is supportive and based on the symptoms in each individual. This may include physical therapy, occupational therapy, and speech therapy. Surgery may be necessary to correct certain physical abnormalities.

External links

Medical encyclopedia article on Roberts syndrome
Wikipedia's article - Roberts syndrome

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Roberts syndrome