Orphanet: Polysyndactyly cardiac malformation syndrome

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Polysyndactyly-cardiac malformation syndrome

Disease definition

Polysyndactyly-cardiac malformation 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).


Classification level: Disorder
  • Synonym(s):
    • Bonneau syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 263630
  • UMLS: C1849719
  • MeSH: -
  • GARD: 4428
  • MedDRA: -
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