sirenomelia

Sirenomelia (also known as the mermaid syndrome) is a rare congenital malformation characterized by the fusion of lower limb structures.

Epidemiology

The estimated incidence is at ~1 in 60,000-70,000 of pregnancies . There may be greater male predilection (somewhat paradoxical given the usage of a mermaid).

Associations

Pathology

While it was previously thought as belonging to the same spectrum as the caudal regression syndrome, this proposition is now controversial and current thinking is it results from a separate pathogenesis. A vascular steal phenomenon causing severe ischemia to the caudal portion of the fetus is often accepted.

Radiographic features

Antenatal ultrasound

The lower extremities typically appear fused into a single limb and there can be sacral agenesis to varying degrees.

Ancillary sonographic features:

Treatment and prognosis

The condition is often fatal and incompatible with life (contrary to popular fairy tales). Exceptional cases without renal agenesis may survive. Depending on the country you live in, a termination of pregnancy could be considered in appropriate situations.

History and etymology

Derives from the Latin words: 'siren' meaning "a partly female creature in Greek legend whose beautiful singing lured sailors to their deaths" and 'melia' meaning limb

Differential diagnosis

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