An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly

Abstract

Rubinstein-Taybi Syndrome (RSTS) is a rare multiple congenital anomaly syndrome. Only 250 cases have been described in medical literature. We hereby present a 10-month-old male child with characteristic facial features and hand and feet anomalies. The characteristic features of hands and feet typically described are broad thumbs and halluces and clinodactyly of the 5^th finger, whereas polydactyly is a rarely reported feature in this syndrome. This case promotes awareness regarding this syndrome and emphasises rarely reported features that should raise high degree of suspicion in a child presenting with multiple congenital anomalies and have a great importance in diagnosis of a genetic syndrome like RSTS. Early detection is essential for prevention of morbidity, mortality and disability.