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Familial caudal dysgenesis

Orpha number ORPHA1768
Synonym(s) Rudd-Klimek syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Caudal dysgenesis is a clinical entity that can present as variable anomalies of the caudal pole. It has been described in four sibs and their father's half-sister. The first sib had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the sibs showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity. Caudal dysgenesis may be related to the Currarino triad (see this term), which is sometimes due to a dominant mutation and includes anomalies of the caudal pole but never includes sirenomelia. In addition, none of the patients described with caudal dysgenesis had tight medulla or lumbosacral lipoma, major features of the Currarino triad.


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