Roberts syndrome (RBS) is a rare craniofacial anomaly associated with tetraphocomelia, growth and mental retardation, cardiac and renal abnormalities. The RBS is caused by homozygous mutation in the ESCO2 gene on chromosome 8p21. In this report, the authors describe a 5-year-old female infant with RBS and bilateral cleft lip and cleft palate, an extremely rare condition.
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