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Polysyndactyly - cardiac malformation

Orpha number ORPHA2934
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code -
MIM number
Synonym(s) -

Summary

This syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). *Author: Orphanet (October 2006)*.

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