Congenital vertebral-cardiac-renal anomalies syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Congenital vertebral-cardiac-renal anomalies syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.