Summary about Disease
Roberts syndrome (RBS) is a rare genetic disorder characterized by prenatal and postnatal growth deficiency, limb malformations (affecting all four limbs but often more severely the arms), facial abnormalities, and, in some cases, intellectual disability. The severity of symptoms varies widely among affected individuals. It is also known as pseudothalidomide syndrome because the limb malformations seen in RBS are similar to those caused by the drug thalidomide, which was once prescribed for morning sickness.
Symptoms
Symptoms of Roberts syndrome can vary significantly but commonly include:
Growth deficiency: Both before and after birth (prenatal and postnatal growth retardation).
Limb Malformations: Affecting all four limbs, but arms are often more severely affected than legs. Malformations can range from missing bones and digits to shortening of limbs. Phocomelia (seal-like limbs) can occur.
Facial Abnormalities: These can include a small head (microcephaly), prominent eyes, a small jaw (micrognathia), a beak-like nose, cleft lip and/or palate, and malformed or low-set ears.
Intellectual Disability: Varies in severity; some individuals have normal intelligence, while others have mild to severe intellectual disability.
Other potential symptoms: Cardiac and renal abnormalities, eye abnormalities (cataracts, glaucoma), and genital abnormalities.
Causes
Roberts syndrome is caused by mutations in the ESCO2 gene. This gene provides instructions for making a protein that is essential for proper chromosome segregation during cell division. Mutations in *ESCO2* disrupt this process, leading to errors in cell division and development. Roberts Syndrome is inherited in an autosomal recessive manner, meaning an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.
Medicine Used
4. Medicine used There is no specific cure or medication to reverse Roberts syndrome. Treatment focuses on managing the symptoms and providing supportive care. This may include:
Surgical interventions: To correct limb malformations, cleft lip/palate, and other structural abnormalities.
Physical therapy: To improve mobility and function.
Occupational therapy: To help individuals develop skills for daily living.
Speech therapy: To address speech and language difficulties.
Educational support: Special education services may be needed to address intellectual disability.
Cardiac and renal specialists: If heart or kidney abnormalities are present
Pain management: As needed
Is Communicable
Roberts syndrome is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
Since Roberts syndrome is a genetic condition, there are no precautions to prevent its occurrence in individuals who do not carry the mutated ESCO2 gene. Genetic counseling and prenatal testing (amniocentesis or chorionic villus sampling) are options for families with a history of RBS who are planning to have children.
How long does an outbreak last?
Roberts syndrome is not an infectious disease and therefore does not have outbreaks. It is a genetic condition that is present from birth.
How is it diagnosed?
Roberts syndrome can be diagnosed through:
Clinical evaluation: Based on the presence of characteristic physical features, such as limb malformations and facial abnormalities.
Chromosomal analysis: Showing characteristic "railroad track" appearance due to premature centromere separation (commonly used in the past but not as definitive as genetic testing).
Genetic testing: Molecular genetic testing of the ESCO2 gene to identify mutations. This is the most definitive method of diagnosis.
Prenatal ultrasound: May detect limb abnormalities, prompting further investigation.
Timeline of Symptoms
9. Timeline of symptoms Roberts syndrome symptoms are present from birth (congenital). Some symptoms, like growth deficiency, are present prenatally. The severity and specific symptoms present may evolve over time, but the underlying condition is lifelong.
Important Considerations
Genetic Counseling: Essential for families with a history of Roberts syndrome to understand the risk of recurrence and options for prenatal testing.
Multidisciplinary Care: Individuals with Roberts syndrome require comprehensive care from a team of specialists, including pediatricians, geneticists, orthopedic surgeons, plastic surgeons, therapists, and educators.
Variability: The severity of symptoms varies widely, and management should be tailored to the individual's specific needs.
Support Groups: Connecting with other families affected by Roberts syndrome can provide valuable support and information.
Early Intervention: Early intervention services are crucial to maximize the developmental potential of children with Roberts syndrome.