Hypocalcemic vitamin D-dependent rickets
ORPHA:289157· ICD-10 E55.0
Definition
A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal