Sirenomelus
Sirenomelus Sirenomelus, also known as mermaid syndrome, is a rare congenital developmental disorder characterized by the fusion of the lower limbs. This condition is a form of caudal regression syndrome and is associated with a range of other anomalies.
Etiology[edit | edit source]
The exact cause of sirenomelus is not well understood, but it is believed to result from abnormal embryonic development. Factors such as genetic mutations, environmental influences, and maternal diabetes have been implicated in the development of this condition.
Clinical Features[edit | edit source]
Individuals with sirenomelus 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 sirenomelus 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 MRI or CT scan to assess the extent of internal organ involvement.
Treatment[edit | edit source]
There is no cure for sirenomelus, and treatment is primarily supportive and symptomatic. Surgical interventions may be considered to address specific anomalies, such as reconstructive surgery for the urinary tract or gastrointestinal system. Multidisciplinary care involving pediatricians, surgeons, and other specialists is essential.
Prognosis[edit | edit source]
The prognosis for individuals with sirenomelus is generally poor, with many affected infants being stillborn or dying shortly after birth due to severe internal organ malformations. However, there are rare cases of long-term survival with extensive medical intervention.
Epidemiology[edit | edit source]
Sirenomelus is an extremely rare condition, with an estimated incidence of 1 in 100,000 live births. It occurs more frequently in males than females.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Sirenomelus is a rare disease.
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Contributors: Prab R. Tumpati, MD
