Short answer · Medically reviewed summary · Last updated: 2023-07-13
Roberts Syndrome is a rare genetic disorder characterized by severe malformations in multiple organ systems. It is an autosomal recessive condition, meaning that both parents must carry a mutated gene for their child to be affected.
What is Roberts Syndrome
What is Roberts Syndrome? Plain-language, medically reviewed definition plus the lived reality told by patients.
Roberts Syndrome is a rare genetic disorder characterized by severe malformations in multiple organ systems. It is an autosomal recessive condition, meaning that both parents must carry a mutated gene for their child to be affected. The syndrome is named after the British geneticist, Robin Roberts, who first described it in 1919.
Individuals with Roberts Syndrome typically exhibit:
- Abnormal facial features
- Growth retardation
- Limb abnormalities
- Intellectual disability
- Heart defects
The severity of symptoms can vary, but affected individuals often face significant challenges in their physical and cognitive development. The underlying cause of Roberts Syndrome is a mutation in the ESCO2 gene, which plays a crucial role in cell division and chromosome structure. This mutation leads to problems in the separation of chromosomes during cell division, resulting in the characteristic malformations.
Diagnosis of Roberts Syndrome is typically made through clinical evaluation, genetic testing, and prenatal ultrasound. While there is no cure for the syndrome, treatment focuses on managing the individual's specific symptoms and providing supportive care.
