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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Hypovitaminosis D
  • Nutritional rickets
  • Vitamin D deficiency disease
  • Vitamin-D deficiency rickets
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Your Question

My baby has been diagnosed with vitamin D deficiency. He has also been found to have high levels of parathyroid hormone and alkaline phosphatase. An x-ray examination did not show any signs of rickets. Is it true that babies younger than 6 months may not have signs of rickets on x-ray? I would like to learn as much as possible about rickets, including how it is diagnosed.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is rickets?

Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.[1]
Last updated: 7/26/2013

What are the signs and symptoms of rickets?

The signs and symptoms of rickets include:[2][3]
  • Bone pain or tenderness
  • Bowed (curved) legs
  • Large forehead
  • Stunted growth
  • Abnormally curved spine
  • Large abdomen
  • Abnormally shaped ribs and breastbone
  • Wide wrist and elbow joints
  • Teeth abnormalities
Last updated: 7/26/2013

How is rickets diagnosed?

Rickets is typically diagnosed using specific blood tests and x-rays. Blood tests usually show low levels of calcium and phosphorus and high levels of alkaline phosphatase. Bone x-rays may show areas with calcium loss or changes in bone shape. Bone biopsies are rarely performed, but can confirm the diagnosis of rickets.[2]
Last updated: 7/26/2013

Is it true that babies younger than 6 months of age may not have signs of rickets on x-ray?

X-rays may not be able to diagnose rickets during the early stages of this condition; however, chemical changes in the blood would already be present. Although x-rays of both the wrist and knee are commonly used to diagnose rickets, knee x-rays may be more reliable for infants.[4]
Last updated: 7/26/2013

What causes rickets?

Rickets is caused by a lack of vitamin D. A child might not get enough vitamin D if he or she:[1]
  • Has dark skin
  • Spends too little time outside
  • Has on sunscreen all the time when out of doors
  • Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet
  • Is breastfed without receiving vitamin D supplements
  • Can't make or use vitamin D because of a medical disorder such as celiac disease
  • Has an inherited disorder that affects vitamin D levels
  • Last updated: 7/26/2013

    What treatment is available for rickets?

    The treatment for rickets depends on the cause of the condition. If rickets is caused by a lack of vitamin D in the diet, then it is usually treated with carefully adjusted levels of vitamin D and calcium. The child's condition may improve within a few weeks of treatment. If rickets is caused by an inherited disorder or another medical condition, a healthcare provider would determine the appropriate treatment.[3]
    Last updated: 7/26/2013

    References