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Disorder of bone
- Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and ...
- ... hypophosphatemic rickets Genetic Testing Registry: Autosomal recessive hypophosphatemic bone disease Genetic Testing Registry: Familial X-linked hypophosphatemic vitamin ...
- Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are ...
- Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. ...
- ... a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have ... ossificans Fibrodysplasia ossificans progressiva ... of the BMP-p38 MAPK signaling pathway in cells from patients with fibrodysplasia ossificans progressiva (FOP). J Bone Miner Res. 2006 Jun;21(6):902-9. ...
- ... rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, ... features of distal renal tubular acidosis, such as bone problems and kidney stones. Often, ... to cause the disorder. In most cases, an affected person inherits the ...
- ... problems with kidney function and hypophosphatemic rickets, a bone disorder that often causes bone pain and bowed legs. It is unclear why ...
- ... responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage development that occurs almost exclusively in ...
- ... vitamin D-dependent rickets type 1B (VDDR1B). This disorder of bone development is characterized by low levels of calcium ( ...
- ... 1A or the Houston-Harris type. This rare disorder of bone development is characterized by extremely short limbs, a ...