Rickets Differential Diagnoses

Updated: Sep 09, 2022
  • Author: Steven M Schwarz, MD, FAAP, FACN, AGAF; Chief Editor: Jatinder Bhatia, MBBS, FAAP  more...
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Diagnostic Considerations

Rare metabolic bone diseases, including hypophosphatasia, have been confused with rickets in infancy. Jansen syndrome is a rare autosomal dominant form of short-limbed dwarfism in which infants present with metaphyseal chondroplasia. Hereditary disorders of vitamin D metabolism have also been described, such as hypophosphatemic vitamin D–resistant rickets.

Severe calcium deficiency can also cause a syndrome that is confused with vitamin D deficiency rickets. Premature infants who are breast fed and do not receive mineral supplements may develop severe phosphorus deficiency that presents as rickets.