Results 81 -
90
of
129
for
Bone development disease
- ... loss of cells from various tissues during early development. Because both mildly and severely affected individuals lack any functional ESCO2 protein, the underlying cause of the variation in disease severity remains unknown. Researchers suspect that other genetic ...
- ... Insulin resistance may develop into a more serious disease called diabetes mellitus. Most affected individuals also have high levels of fats called triglycerides circulating in the bloodstream (hypertriglyceridemia), which can lead to the development of small yellow deposits of fat under the ...
- ... otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and gastrointestinal tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis.There are two forms of ...
- ... skull, spine, ribs, and pelvis. The deterioration of bone can result in an ... that impair the development of normal blood cells. As a result, affected ...
- ... progressive bony fusion is called ankylosis. These fused bones are prone to fracture.Ankylosing spondylitis can involve other joints as well, including the shoulders, hips, and, less often, the knees. As the disease progresses, it can affect the joints between the ...
- ... year of life. Development is delayed, particularly the development of speech and motor skills such as sitting and standing.Children with mucolipidosis II alpha/beta typically have several bone abnormalities, many of which are present at birth. ...
- ... cell. These stem cells are located in the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets. JAK2 gene mutations seem to be particularly important for the development of polycythemia vera, as nearly all affected individuals ...
- ... thought to play an important role in the development of the nervous system. This protein also helps regulate the growth of the skull and the long bones in the arms and legs.The FGFR1 gene ...
- ... have a normal life expectancy and normal intellectual development.The severity of skeletal problems in TAR syndrome varies among affected individuals. The radius, which is the bone on the thumb side of the forearm, is ...
- ... usually occurs in childhood, typically leading to the development of retinoblastoma in both eyes.In the non-hereditary form of retinoblastoma, typically only one eye is affected and there is no family history of the disease. Affected individuals are born with two normal copies ...
