Sirenomelia syndrome (caudal dysgenesis): A case report

Abstract

Sirenomelia is a rare congenital anomaly with an incidence of one in 100,000 pregnancies. It is also called as Mermaid Syndrome because of fused leg, giving appearance of mermaid’s tail. The cause of the condition is probably due to abnormalities in gastrulation in caudal segments. It was initially termed caudal regression, but it is clear that structures do not regress, they simply do not form. It is also known as caudal agenesis and sacral agenesis. Sirenomelia is characterized by varying degrees of flexion, inversion, lateral rotation, and fusion of the lower limbs. Other anomalies associated with this condition are, defects in lumbar and sacral vertebrae, renal agenesis, imperforate anus and agenesis of internal genital structures except the testes and ovaries. Its cause is unknown. It occurs sporadically but is most frequently observed among infants of diabetic mothers. This study points out a detail analysis of phenotypic features along with structural alteration of internal organs. The possible causes and outcome of the condition can be correlated, that may help in better understanding of the condition and provide clues for possible management.