Dwarfism, achondroplastic: A genetic disorder of bone growth, achondroplasia is the most common cause of short stature with disproportionately short limbs — dwarfism with short arms and legs. There is a typically large head with prominence of the forehead (frontal bossing), underdevelopment (hypoplasia) of the midface with cheekbones that lack prominence, and a low nasal bridge with narrow nasal passages. The fingers are short and the ring and middle fingers diverge giving the hand a trident (three-pronged) appearance.
The brain is normal and intelligence is entirely normal in achondroplasia. However, the complications of achondroplasia can impinge on the brain and the spinal cord.
Achondroplasia is inherited as an autosomal dominant trait affecting boys and girls equally. The parents of children with achondroplasia are more often than not normal. Most cases of achondroplasia are due to new mutations that appear for the first time in the affected children.
Achondroplasia can be diagnosed before birth by molecular means with amniocentesis. The limited number of DNA changes responsible for achondroplasia and the ease with which they can be detected provide the basis for a simple method for prenatal diagnosis.
Dwarfism: Abnormally short stature. Some forms are hereditary. The Little People of America (LPA) define dwarfism as an adult height of 148 cm (4 feet 10 inches) or less. Also known as nanism. Dwarfism is now more correctly called short stature. See also specific types, such as Achondroplasia, Hypochondroplasia, Pituitary dwarfism, Seckel syndrome, Thanatophoric dwarfism.
Dwarf: Someone with dwarfism, which is now more correctly called short stature. People with dwarfism (short stature) also consider themselves little people, as in the Little People of America.
E2F3: E2F transcription factor 3. E2F3 is a gene on chromosome 6p22 that is a member of the E2F family of transcription factors. E2F3 may be a key gene in modulating the aggressivity of prostate cancer. E2F3 is present in a high proportion (67%) of prostate cancers. Men with prostate cancer exhibiting detectable E2F3 expression […]
- Eagle syndrome
Eagle syndrome: Inflammation of the styloid process, a spike-like growth that projects out of the base of the skull. If the styloid process is oversized or projects too far, the tissues in the throat can rub on it causing pain during the act of swallowing and pain on rotation of the neck. Diagnosis of Eagle […]
Ear: The hearing organ. There are three sections of the ear, according to the anatomy textbooks. They are the outer ear (the part we see along the sides of our head behind the temples), the middle ear, and the inner ear. But in terms of function, the ear has four parts: those three and the […]