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Start free with EleplanHypocalcemic vitamin D-dependent rickets
ORPHA:289157Disease
Also called 1-alpha-hydroxylase deficiency · PDDRI · Pseudovitamin D-deficient rickets · VDDI · VDDR-I · Vitamin D dependent rickets type I · Vitamin D-dependency type I
What it is
A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
Key facts
- Prevalence
- 1-5 / 10 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Always100%
3- HypocalcemiaDiagnostic criterion
- Low serum calcitriolDiagnostic criterion
- RicketsDiagnostic criterion
Very common80–99%
28- Bone pain
- Deformed rib cage
- Delayed epiphyseal ossification
- Elevated alkaline phosphatase of bone origin
- Elevated circulating parathyroid hormone level
- Enlargement of the ankles
- Enlargement of the costochondral junction
- Enlargement of the wrists
- Failure to thrive
- Femoral bowing
- Flat occiput
- Generalized aminoaciduria
- Genu varum
- Hypophosphatemia
- Increased susceptibility to fractures
- Irregular, rachitic-like metaphyses
- Motor delay
- Muscle weakness
- Osteomalacia
- Postnatal growth retardation
- Rachitic rosary
- Secondary hyperparathyroidism
- Sparse bone trabeculae
- Subperiosteal bone resorption
- Tetany
- Thin bony cortex
- Tibial bowing
- Wide cranial sutures
Common30–79%
7These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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