Living with Vitamin D-dependent rickets, type 2
An inherited condition in which the body does not respond to vitamin D, causing low calcium, severe soft bones, and often hair loss.
Understanding Vitamin D-dependent rickets, type 2
It causes low calcium, severe rickets (soft, weak bones), and in many cases hair loss (alopecia). Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Soft, weak bones (rickets)
- Bone pain
- Hair loss (alopecia)
- High parathyroid hormone
- Early loss of baby teeth
- Kidney stones
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 bone and joint specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in VDR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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
This condition is caused by changes in the VDR gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: calcitriol receptor defect; end organ unresponsiveness to 1,25-dihydroxycholecalciferol; familial hypophosphatemic rickets; hereditary 1,25 dihydroxyvitamin d-resistant rickets with abnormal vitamin d receptor; hereditary vitamin d-resistant rickets; hvdrr
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, type 2.
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