Sirenomelia - Revisited

Abstract

Sirenomelia, commonly known as mermaid syndrome is a rare congenital condition, featured by fusion of the lower limbs. This represents the most severe form of caudal regression syndrome, in which all the structures from the caudal mesoderm fail to develop properly. There is a marked deformity in the musculoskeletal system at the caudal end of the trunk and lower limbs. It is invariably associated with visceral malformations of the urogenital and gastrointestinal systems like agenesis or hypoplasia of renal tissue, blind termination of the colon, absent external genitalia and imperforate anus. It is usually associated with single umbilical artery. Though association with maternal diabetes has been described, the causative mechanisms remain unclear. The condition is generally fatal, due to associated developmental anomalies of kidneys and other viscera.

Keywords

• sirenomelia
• visceral malformation
• caudal regression
• defective gastrulation