Roberts Syndrome (ESCO2)

Roberts syndrome is a pan-ethnic, autosomal recessive disease that is caused by pathogenic variants in the ESCO2 gene. Some clinical manifestations of this disorder can sometimes be detected prenatally on ultrasound, including growth retardation, abnormal or missing fingers or toes, and joint deformities. This condition can also result in severe limb shortening, intellectual disability and facial dysmorphism. The severity of limb malformations is correlated to the presence of facial anomalies. Congenital heart defects, renal malformations, or abnormal genitalia have also been noted in individuals with this disorder. Life expectancy may be reduced to infancy or early childhood for patients who have severe heart defects or kidney abnormalities. It is not currently possible to predict the severity of disease based on the variants inherited.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Roberts SyndromeESCO23, 4, 6-11 [11] (*27)ARWorldwide< 1 in 50094%0.000120221207020918