Roberts syndrome
Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities, often accompanied by slow growth and intellectual impairment.
Overview
Roberts syndrome is characterized by limb and facial abnormalities and slow growth before and after birth. About half of affected individuals experience mild to severe intellectual impairment. Infants with a severe form are often stillborn or die shortly after birth, while mildly affected individuals may live into adulthood.
Physical Characteristics
- Limb abnormalities: Shortened arm and leg bones (hypomelia), particularly in forearms and lower legs. In severe cases, hands and feet may be located very close to the body (phocomelia). Joint deformities (contractures) are common at the elbows and knees.
- Facial abnormalities: These include an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), a small chin (micrognathia), ear abnormalities, wide-set eyes (hypertelorism), and a small head size (microcephaly).
Causes
Mutations in the ESCO2 gene cause Roberts syndrome. This gene is essential for proper chromosome separation during cell division. The ESCO2 protein helps hold sister chromatids together. Mutations prevent the production of functional ESCO2 protein, leading to delayed cell division and the loss of cells during early development.
Inheritance
This condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. Parents of an affected individual typically do not show signs or symptoms of the condition.