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Sirenomelia

Abstract

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NORD is very grateful to Susan E. Crawford, DO, Director, Metabolic Core Facility, NorthShore University Research Institute, for assistance in the preparation of this report.

Synonyms of Sirenomelia

  • mermaid syndrome
  • sirenomelia sequence
  • sirenomelia syndrome
  • sirenomelus

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs. Additional malformations may also occur including genitourinary abnormalities, gastrointestinal abnormalities, anomalies of the lumbarsacral spine and pelvis and absence or underdevelopment (agenesis) of one or both kidneys. Affected infants may have one foot, no feet or both feet, which may be rotated externally. The tailbone is usually absent and the sacrum is partially or completely absent as well. Additional conditions may occur with sirenomelia including imperforate anus, spina bifida, and heart (cardiac) malformations. Sirenomelia is often fatal during the newborn period. The exact cause of sirenomelia is unknown, most cases occur randomly for no apparent reason (sporadically).

Some sources in the medical literature classify sirenomelia as the most severe form of caudal regression syndrome, a complex developmental disorder. However, recently many researchers have indicated that sirenomelia is a similar, but distinct, disorder. NORD has a separate report on caudal regression syndrome.

Organizations related to Sirenomelia

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