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Disease Profile

Rickets

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

Europe Estimated

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Vitamin-D deficiency rickets; Nutritional rickets; Hypovitaminosis D;

Categories

Nutritional diseases

Summary

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]

Symptoms

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

Cause

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
  • Diagnosis

    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]

    Treatment

    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]

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • Genetics Home Reference (GHR) contains information on Rickets. This website is maintained by the National Library of Medicine.
    • The Office of Dietary Supplements provides more information on vitamin D. You can view this information by clicking on the Office of Dietary Supplements link.

    In-Depth Information

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Rickets. Click on the link to view a sample search on this topic.

    References

    1. Rickets. MedlinePlus Web site. September 9, 2007; https://www.nlm.nih.gov/medlineplus/rickets.html. Accessed 4/14/2008.
    2. Van Voorhees BW. Rickets. MedlinePlus Web site. August 18, 2008; https://www.nlm.nih.gov/medlineplus/ency/article/000344.htm. Accessed 4/14/2008.
    3. Rickets: What It Is and How It's Treated. FamilyDoctor.org. September 2007; https://familydoctor.org/online/famdocen/home/children/parents/special/bone/902.printerview.html. Accessed 4/14/2008.

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