Roberts-SC phocomelia syndrome (MONDO_0100253, a Monarch Disease Ontology id) is 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, SC phocomelia syndrome, hypomelia hypotrichosis facial hemangioma syndrome.