Orphanet: Congenital vertebral cardiac renal anomalies syndrome

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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.

ORPHA:521438

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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Congenital vertebral-cardiac-renal anomalies syndrome

ORPHA:521438

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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