Vitamin D Deficiency and Related Disorders Clinical Presentation

  • Author: Vin Tangpricha, MD, PhD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
Updated: Oct 30, 2015


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.[6]

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.

Contributor Information and Disclosures

Vin Tangpricha, MD, PhD Associate Professor of Medicine, Division of Endocrinology, Metabolism and Lipids, Emory University School of Medicine

Vin Tangpricha, MD, PhD is a member of the following medical societies: American Association of Clinical Endocrinologists, Endocrine Society

Disclosure: Received grant/research funds from NIH for principal investigator; Received grant/research funds from Cystic Fibrosis for other.


Natasha B Khazai, MD Instructor of Medicine, Division of Endocrinology, Emory University School of Medicine

Natasha B Khazai, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Romesh Khardori, MD, PhD, FACP Professor of Endocrinology, Director of Training Program, Division of Endocrinology, Diabetes and Metabolism, Strelitz Diabetes and Endocrine Disorders Institute, Department of Internal Medicine, Eastern Virginia Medical School

Romesh Khardori, MD, PhD, FACP is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians, American Diabetes Association, Endocrine Society

Disclosure: Nothing to disclose.


Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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Findings in patients with rickets.
Radiograph in a 4-year-old girl with rickets depicts bowing of the legs caused by loading.
Anteroposterior and lateral radiographs of the wrist of an 8-year-old boy with rickets demonstrates cupping and fraying of the metaphyseal region.
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