Achondrogenesis: A genetic disorder of bone. There are a number of different types of achondrogenesis.
- Achondrogenesis type II
Achondrogenesis type II: A severe inherited disorder of bone growth characterized by a short body and limbs and a lack of bone formation in the spine and pelvis. Infants with this disorder have short arms and legs, a small chest with short ribs, and underdeveloped lungs. The skull bones may be soft, but they often […]
- Achondrogenesis-hypochondrogenesis, type II
Achondrogenesis-hypochondrogenesis, type II: See: Achondrogenesis type II.
The most common form of short stature with disproportionately short limbs — dwarfism with short arms and legs. Achondroplasia is caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3), which is located on chromosome 4 in chromosome band 4p16.3. Aside from short arms and legs, the fingers are short and the ring and […]
- Achoo syndrome
Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing […]
Achromatopsia: A hereditary disorder of sight due to a lack of cone vision – that type of vision provided by the cone photoreceptors in the retina. In the normal eye, there are some 6 million cone photoreceptors; they are located largely in the center of the retina. Lacking cones, persons with achromatopsia have to rely […]