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Congenital vertebral-cardiac-renal anomalies syndrome

Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others.


Classification level: Disorder
  • Synonym(s):
    • Congenital NAD deficiency disorder
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 617660  617661  618845
  • UMLS: C5680183
  • MeSH: -
  • GARD: -
  • MedDRA: -
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