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A disorder of bone formation that leads to bone loss and bone shrinking of the bones, resulting in softening and weakening of the bones. Vitamin D-dependent rickets is a form of bone growth that results in bone degeneration that results in bone amorphic disorder. Vitamin D-dependent rickets appear within months after birth, and most are the same for both types of the disease. When affected children first began to walk, they may have abnormally curved legs because the bones are too young to support weight. Impaired bone growth has also resulted in the widening of the areas near the end of bones, where new bone formation begins, especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities, such as thin tooth enamel and frequent cavities. High doses of a hormone that controls calcium levels called parathyroid hormone are also present in regulating calcium levels, causing a condition called secondary hyperparathyroidism. In affected individuals, low amounts of a mineral called phosphate are present. Individuals with VDDR1A and VDDR2B have abnormally low calcitriol, which is the active form of vitamin D; people with VDDR1A and VDDR1B have abnormally poor calcitriol, while people with VDDR2A and VDDR2B have abnormally high calcitriol; people with VDDR1B and VDDR2B have abnormally high levels of calcitriol, as well as VDDR2B Hair loss can occur in VDDR2A, but not everyone with this disorder has alopecia. On their heads, affected individuals can have sparse or patchy hair or no hair at all. Body hair is also missing in certain affected individuals.
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