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Vitamin D resistant rickets

Orpha number ORPHA437
Prevalence of rare diseases Unknown
Inheritance
  • X-linked dominant
  • Autosomal dominant
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code
  • E83.3
MIM number
Synonym(s) -

Summary

Vitamin D resistant rickets is defined by its resistance to the vitamin D treatment generally used in deficiency rickets. Typical signs are observed from the first months of life: radiological signs of defective mineralization on cartilage growth plates (rickets) and bones (osteomalacia) and alterations of the phosphocalcic homeostasis in spite of a satisfactory vitamin D status. The clinical phenotype combines bone deformities, mainly at the lower limbs, and other signs depending upon the etiology of the resistance (see below). Two groups of hereditary resistant rickets should be distinguished: hypophosphatemic rickets and pseudo-deficiency rickets.* Author: Dr M. Garabedian (January 2002)*.

Detailed information

Review article
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