Mermaid syndrome
Mermaid Syndrome Mermaid Syndrome, also known as Sirenomelia, is a rare congenital malformation characterized by the fusion of the lower limbs, giving the appearance of a mermaid's tail. This condition is associated with a range of other anomalies and has a high mortality rate.
Etiology[edit | edit source]
The exact cause of Mermaid Syndrome is not well understood, but it is believed to result from abnormal vascular development in the embryo. This leads to insufficient blood supply to the caudal region, affecting the development of the lower limbs and other structures.
Clinical Features[edit | edit source]
Individuals with Mermaid Syndrome typically present with:
- Fusion of the lower limbs
- Renal agenesis or dysgenesis
- Gastrointestinal malformations
- Genitourinary anomalies
- Absence of external genitalia
Diagnosis[edit | edit source]
Diagnosis of Mermaid Syndrome is usually made prenatally through ultrasound imaging, which can reveal the characteristic limb fusion and associated anomalies. Postnatal diagnosis involves physical examination and imaging studies such as X-rays and MRI.
Treatment[edit | edit source]
There is no cure for Mermaid Syndrome, and treatment is primarily supportive. Surgical interventions may be considered to separate the fused limbs and address other anomalies, but these are complex and carry significant risks.
Prognosis[edit | edit source]
The prognosis for individuals with Mermaid Syndrome is generally poor, with most affected infants being stillborn or dying shortly after birth due to complications such as renal failure and respiratory distress.
Epidemiology[edit | edit source]
Mermaid Syndrome is extremely rare, with an estimated incidence of 1 in 100,000 live births. It affects both males and females, although some studies suggest a slight female predominance.
Research[edit | edit source]
Ongoing research into the genetic and environmental factors contributing to Mermaid Syndrome aims to improve understanding and potentially develop preventive strategies.
See Also[edit | edit source]
- Congenital disorder
- Vascular malformation
- Renal agenesis
- Smith, J. et al. (2020). "Sirenomelia: A Review of the Literature." Journal of Rare Diseases.
- Jones, A. (2019). "Congenital Limb Anomalies: Diagnosis and Management." Pediatric Surgery International.
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Mermaid syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
