Vitamin D Deficiency and Related Disorders Clinical Presentation

Updated: Sep 08, 2022
  • Author: Vin Tangpricha, MD, PhD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
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Vitamin D deficiency is often a silent disease. By definition, rickets occurs in children whose growth plates have not fused. These children are often found to have started walking late or prefer to sit down for prolonged periods. In adults, vitamin D deficiency results in osteomalacia, which presents as a poorly mineralized skeletal matrix. Adults in these cases can experience chronic muscle aches and pains. [7]

Vitamin D deficiency is the most common cause of nutritional rickets. Rare genetic forms of rickets occur because of defects in vitamin D metabolism. Vitamin D–dependent rickets type I occurs because of a defect in the renal 25-hydroxyvitamin D-1 alpha-hydroxylase that results in decreased 1,25(OH)2 D production. Vitamin D–dependent rickets type II occurs when a mutation exists in the VDR.



In children with a severe vitamin D deficiency, the examination may reveal bowing in the legs. In adults with a severe vitamin D deficiency, the examination can reveal periosteal bone pain. This is best detected using firm pressure on the sternal bone or tibia.