National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Familial Hypophosphatemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- hereditary type I hypophosphatemia (HPDR I)
- hereditary type II hypophosphatemia (HPDR II)
- hypophosphatemic D-resistant rickets I
- hypophosphatemic D-resistant rickets II
- phosphate diabetes
- X-linked hypophosphatemia (XLH)
- X-linked vitamin D-resistant rickets
- autosomal dominant hypophosphatemic rickets (ADHR)
- autosomal recessive hypophosphatemic rickets
- X-linked hypophosphatemic rickets
Familial hypophosphatemia is a rare inherited disorder characterized by impaired transport of phosphate and often altered vitamin-D metabolism in the kidneys. In addition, phosphate may not be well-absorbed in the intestines. The hypophosphatemia resulting from these impairments can lead to a skeletal defect called osteomalacia, which can be considered a softening of bones. Familial hypophosphatemia also results in rickets, a childhood bone disease with characteristic bow deformities of the legs, as well as growth plate abnormalities and progressive softening of the bone as occurs in osteomalacia. In adults, the growth plate is not present so that osteomalacia is the evident bone problem. In children, growth rates may be slower than normal, frequently resulting in short stature. Familial hypophosphatemia is most often inherited as an X-linked trait. However, autosomal dominant and recessive forms of familial hypophosphatemia occur.
March of Dimes Birth Defects Foundation
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 2/27/2013
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