Caudal dysplasia syndrome and sirenomelia: Are they part of a spectrum

Jocelyn H. Bruce, Rita L. Romaguera, Maria M. Rodriguez, Vctor H. Gonzlez-Quintero, E. Michel Azouz

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Caudal dysplasia syndrome (CDS) is associated with hypoplastic lower extremities, caudal vertebrae, sacrum, neural tube, and urogenital organs. Sirenomelia is characterized by a single lower extremity, absent sacrum, urogenital anomalies, and imperforate anus. There is controversy in the medical literature about whether sirenomelia and CDS are part of the spectrum of the same malformation. Patients with CDS and sirenomelia were identified from our pathology files from 1991 to 2006. Maternal history, pathologic examination, and radiographs were collected and tabulated. We found 9 cases with CDS and 6 with sirenomelia. Fully 7 of 9 patients with CDS (77.7) versus none of sirenomelic babies were infants of diabetic mothers. Congenital heart disease was present in 5 patients with CDS (55.5) and none of the infants with sirenomelia. Of 9 children with CDS 2 (22.2) had bilateral renal agenesis versus 66 of sirenomelics. Single umbilical artery was found in 33 of cases with CDS and 100 of children with sirenomelia. External genitalia were ambiguous in 2 of 9 patients (22.2) with CDS and in all patients with sirenomelia. Imperforate anus was found in 10 cases (66.6) divided as 4 of 9 babies with CDS (44.4) and all patients with sirenomelia. Three patients with CDS had concomitant maternal diabetes mellitus and chronic hypertension. These babies also had cleft lip and palate. Congenital heart disease was found in 55.5 of cases with CDS and none of the children with sirenomelia. We conclude that although CDS and sirenomelia share many similar features, they are two different entities.

Original languageEnglish (US)
Pages (from-to)109-131
Number of pages23
JournalFetal and Pediatric Pathology
Issue number3
StatePublished - 2009


  • Caudal dysplasia syndrome
  • Congenital heart disease
  • Maternal diabetes
  • Oligohydramnios
  • Renal anomalies
  • Sacral agenesis
  • Sirenomelia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health


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