Living with Vitamin D-dependent rickets, type 1
An inherited condition, starting in infancy, that makes bones soft and weak and can slow growth.
Understanding Vitamin D-dependent rickets, type 1
Signs begin within months after birth. Weak bones can cause bone pain, slow growth, and fractures. When children start to walk, their legs may bow. The ends of bones can widen, especially at the knees, wrists, and ribs. Low muscle tone and weakness are common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Soft, weak bones (rickets)
- Bone pain
- Bowed legs
- Slow growth and poor weight gain
- Low muscle tone (hypotonia)
- Easily broken bones
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes (variants) cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 1 alpha-hydroxylase deficiency; 1-alpha-hydroxylase deficiency; 25-hydroxycholecalciferol-1-hydroxylase deficiency; calcidiol 1-monooxygenase defect; hypocalcemic vitamin d-dependent rickets; pddr - pseudovitamin d deficiency 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, type 1.
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