Living with Congenital vertebral-cardiac-renal anomalies syndrome
A rare genetic condition with spine, heart, and kidney differences present from birth.
Understanding Congenital vertebral-cardiac-renal anomalies syndrome
The spine bones (vertebrae) do not form in separate segments properly. Heart differences can include a hole between the heart's upper chambers, an open duct (patent ductus arteriosus), and an underdeveloped left heart. Kidneys can be small, and chronic kidney disease can occur. Other reported features include limb differences, short stature, developmental delay, and hearing loss. It starts in newborns.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Spine bone differences
- Heart differences
- Small kidneys and kidney disease
- Short stature
- Developmental delay
- Hearing loss from the inner ear
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists, heart and blood vessel specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital nad deficiency disorder; congenital vertebral, cardiac, renal anomalies syndrome; vcrl; vertebral, cardiac, renal, and limb defects syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital vertebral-cardiac-renal anomalies syndrome.
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