Roberts-SC phocomelia syndrome
Roberts-SC phocomelia syndrome
Definition
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, hypomelia hypotrichosis facial hemangioma syndrome, long bone deficiencies associated with cleft lip-palate, phocomelia-pseudothalidomide syndrome, pseudothalidomide syndrome, RBS, Roberts syndrome, Roberts syndrome/SC phocomelia, Roberts tetraphocomelia syndrome, Roberts-SC phocomelia syndrome, SC phocomelia syndrome, tetraphocomelia-cleft palate syndrome — per MONDO