Roberts-SC phocomelia syndrome

A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.

Also known as: Appelt-Gerken-Lenz syndrome, ESCO2 spectrum disorder, RBS, Roberts syndrome, Roberts syndrome/SC phocomelia, Roberts tetraphocomelia syndrome, Roberts-SC phocomelia syndrome, SC phocomelia syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Roberts-SC phocomelia syndrome itself.