Sirenomelia

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Sirenomelia

Sirenomelia (pronounced: si-ren-o-me-li-a), also known as Mermaid Syndrome, is a rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. The etymology of the term comes from the Greek words "siren" which means "mermaid" and "melia" which means "limb".

Definition

Sirenomelia is a severe and often fatal congenital malformation syndrome that results in anomalies of the lower spine and lower limbs. Affected infants are born with partial or complete fusion of the legs, giving them an appearance similar to a mermaid's tail, hence the name.

Symptoms

The symptoms of sirenomelia are primarily related to the abnormal development of the lower body. These may include fused legs, absent or underdeveloped bones, abnormal kidney development, and issues with the gastrointestinal and genitourinary systems.

Causes

The exact cause of sirenomelia is unknown, but it is believed to be due to a combination of genetic and environmental factors. Some researchers suggest that it may be related to vascular steal, where the blood supply to the lower body is redirected to the upper body.

Diagnosis

Diagnosis of sirenomelia is usually made prenatally through ultrasound imaging. The condition can be clearly seen due to the distinctive appearance of the lower body.

Treatment

Treatment for sirenomelia is complex and depends on the specific anomalies present. It may include surgery to separate the fused legs, as well as treatments for any associated conditions.

Prognosis

The prognosis for individuals with sirenomelia is generally poor, with many infants not surviving past birth. However, with advances in medical care, some individuals with this condition have been able to live into adulthood.

Related Terms

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