Living with Vitamin D-dependent rickets
A group of inherited conditions that make bones soft and weak, beginning within months after birth.
Understanding Vitamin D-dependent rickets
There are several types, based on genetic cause: 1A, 1B, 2A, and a very rare 2B. Signs begin within months after birth. Weak bones can cause bone pain, slow growth, and fractures. Children may develop bowed legs once they walk. Some have tooth problems, low muscle tone, or seizures.
Signs & symptoms
GARD doesn't list a common-symptom list, but its summary describes these:
- Soft, weak bones (rickets)
- Bone pain
- Slow growth
- Bowed legs
- Easily broken bones
- Thin tooth enamel and cavities
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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 the types are set apart mainly by their genetic cause. Early signs include low calcium and low phosphate with high parathyroid hormone in the blood.
Also known as: active rickets; vddr; vddr - vitamin d-dependent rickets
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Vitamin D-dependent rickets.
Explore research for Vitamin D-dependent rickets
Explore actively recruiting Vitamin D-dependent rickets studies with HealthSpark.
Find actively recruiting studies for Vitamin D-dependent rickets with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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