Roberts syndrome

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Obesity, Sleep & Internal medicine
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Roberts syndrome
Synonyms	Pseudothalidomide syndrome
Pronounce
Specialty	Medical genetics
Symptoms	Limb malformations, craniofacial abnormalities, growth retardation
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the ESCO2 gene
Risks
Diagnosis	Genetic testing, prenatal ultrasound
Differential diagnosis	Thalidomide embryopathy, TAR syndrome
Prevention	N/A
Treatment	Supportive care, surgical intervention
Medication
Prognosis	Variable, often poor
Frequency	Rare
Deaths

Roberts syndrome is a rare genetic disorder characterized by limb and facial abnormalities. It is also known as pseudothalidomide syndrome due to its phenotypic similarities to the effects of thalidomide exposure. The condition is named after the American geneticist John B. Roberts, who first described it in 1919.

Presentation

Individuals with Roberts syndrome typically present with a range of physical abnormalities. These may include:

• Phocomelia or tetraphocomelia (severe limb malformations)
• Craniofacial abnormalities such as cleft lip and cleft palate
• Microcephaly (abnormally small head)
• Growth retardation
• Intellectual disability

Genetics

Roberts syndrome is inherited in an autosomal recessive manner. The condition is caused by mutations in the ESCO2 gene, which is located on chromosome 8. The ESCO2 gene is responsible for encoding a protein that plays a crucial role in the cohesin complex, which is essential for proper chromosome segregation during cell division.

Diagnosis

Diagnosis of Roberts syndrome is based on clinical evaluation and genetic testing. Prenatal diagnosis can be performed through amniocentesis or chorionic villus sampling if there is a known family history of the disorder.

Management

There is no cure for Roberts syndrome, and treatment is primarily supportive. Management may include:

• Surgical correction of limb and craniofacial abnormalities
• Physical therapy to improve mobility and function
• Special education programs to address intellectual disabilities

Prognosis

The prognosis for individuals with Roberts syndrome varies depending on the severity of the condition. Some individuals may have a relatively normal lifespan with appropriate medical care, while others may experience significant health challenges.

See also

• Phocomelia
• Craniofacial abnormalities
• Cleft lip and palate
• Microcephaly
• Autosomal recessive inheritance
• Genetic disorders

See Also

• List of genetic disorders
• Congenital limb deformities
• Cohesin complex

External Links

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