Congenital vertebral-cardiac-renal anomalies syndrome

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Synonyms: Congenital NAD deficiency disorder

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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