National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hypophosphatemia, Familial 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.
- Hypophosphatemic D-Resistant Rickets I
- Hypophosphatemic D-Resistant Rickets II
- Phosphate Diabetes
- X-Linked Vitamin D-Resistant Rickets
- Hereditary Type I Hypophosphatemia (HPDR I)
- Hereditary Type II Hypophosphatemia (HPDR II)
- X-Linked Hypophosphatemia (XLH)
- X-Linked Hypophosphatemic Rickets
- Autosomal Dominant Hypophosphatemic Rickets (ADHR)
- Autosomal Recessive Hypophosphatemic Rickets
Familial hypophosphatemia is a rare inherited disorder characterized by impaired transport of phosphate and altered vitamin-D metabolism in the kidneys. In addition, calcium and phosphate are not absorbed properly in the intestines, which can lead to softening of bones. Familial hypophosphatemia results in rickets, a childhood bone disease with characteristic growth plate abnormalities and progressive softening of the bone structure. In adults, the growth plate is not present so that the rickets primarily affects bone, a process generall called osteomalacia.
Major symptoms of familial hypophosphatemia include skeletal malformations, bone pain, and abnormally bowed legs. Affected infants often fail to grow at the expected rate, potentially resulting in short stature. Familial hypophosphatemia is most often inherited as an X-linked trait. However, autosomal dominant and recessive forms of familial hypophosphatemia have been reported in the medical literature.
March of Dimes Birth Defects Foundation
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