Sirenomelia

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A rare lethal congenital anomaly that may represent the most severe form of caudal dysgenesia and characterized by fusion of the lower limbs (mermaid-like) always associated with severe genitourinary and gastrointestinal anomalies. Furthermore there is wide phenotipical variability in the musculoskeletal central nervous system cardiopulmonary anomalies present. Pelvic sacral and spinal defects internal and external genitalia defects renal agenesis absent bladder rectal/anal atresia are commonly described. Most cases are stillborn or die during or shortly after birth. Sirenomelia can be classified on the basis of limb malformations phenotypes. Due to the similarity the distinction between sirenomelia and caudal regression syndrome familial caudal dysgenesis and VACTERL is debated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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