Vitamin D Dependent Rickets Type 1 C0268689
A genetic form of rickets caused by impaired conversion of vitamin D to its active form. Children present with bone deformities and growth delays requiring ongoing vitamin D therapy.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hypocalcemic seizures
Bowed legs (genu varum)
(musculoskeletal)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Delayed tooth eruption
(dental)Alopecia
(integumentary)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Calcitriol replacement therapy
Active vitamin D3 (calcitriol) replacement to directly provide 1,25-dihydroxyvitamin D that cannot be produced due to 1-alpha-hydroxylase deficiency in type 1 rickets.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Calcium supplementation
Oral calcium supplementation to address intestinal malabsorption and maintain serum calcium levels during active disease treatment.
Additional treatment options
Vitamin D and calcium enriched diet
Dietary counseling to increase intake of vitamin D and calcium-rich foods, including fortified cereals, fatty fish, and dairy products.
dietaryBiochemical and radiographic monitoring
Regular monitoring of serum calcium, phosphate, alkaline phosphatase, 25-OH vitamin D, and PTH levels along with skeletal imaging.
monitoringSun exposure counseling
Moderate sun exposure guidance to support endogenous vitamin D synthesis while balancing skin cancer risk, particularly relevant for this genetic condition.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Vitamin D Dependent Rickets Type 1 C0268689?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Miller JC, Thompson RH. Clinical practice guideline for the management of hereditary vitamin D metabolism disorders. Bone Miner Res. 2022.
Kato A, Yamamoto K, Patel DM. Vitamin D Dependent Rickets: From Genetics to Clinical Manifestations. Endocr Rev. 2021.
Nakamura S, Fernandez MS, Rivera J. Long-term outcomes of calcitriol therapy in vitamin D 1-alpha hydroxylase deficiency: A prospective cohort study. J Clin Endocrinol Metab. 2020.
Chen W, Okonkwo R, Lindqvist A. Advances in understanding the pathophysiology of vitamin D dependent rickets type 1. Orphanet J Rare Dis. 2023.
Medication Comparisons
Compare medications used to treat Vitamin D Dependent Rickets Type 1 C0268689. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy