A genetic disorder that makes XY fetuses insensitive (unresponsive) to androgens (male hormones) because of a lack of a receptor for testosterone on the cells. Instead, they are born looking externally like normal girls. Internally there is a short blind-pouch vagina and no uterus, Fallopian tubes, or ovaries. There are testes in the abdomen or the inguinal canal. The complete androgen insensitivity syndrome is usually detected at puberty when a girl should, but does not begin to menstruate. The gene for the syndrome is on the X chromosome and codes for the androgen receptor (also called the dihydrotestosterone receptor). There is also partial androgen insensitivity syndrome.
- Syndrome, congenital central hypoventilation
Congenital central hypoventilation syndrome.
- Syndrome, congenital rubella
The constellation of abnormalities caused by infection with the rubella (German measles) virus before birth. The syndrome is characterized by multiple congenital malformations (birth defects) and mental retardation. The individual features of the syndrome include growth retardation, microcephaly (abnormally small head), cataracts, glaucoma, microphthalmia (abnormally small eyes), cardiovascular malformations, hearing loss, and mental retardation. Deafness […]
- Syndrome, Conn
Overproduction of the hormone aldosterone (pronounced al-do-ster-one) by a tumor that contains tissue resembling that normally present in the outer portion (cortex) of the adrenal gland. The excess aldosterone results in a potassium level (hypokalemia), underacidity of the body (alkalosis), muscle weakness, excessive thirst (polydipsia), excessive urination (polyuria), and high blood pressure (hypertension). Also called […]
- Syndrome, contiguous gene
severe developmental delay or mental retardation, severe speech impairment, gait ataxia (wobbliness) and/or tremulousness of the limbs; and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. In addition, microcephaly (abnormally small head) and seizures are common.) In Angelman syndrome the genes that were lost prove always to have […]
- Syndrome, cracked tooth
A toothache caused by a broken tooth (tooth fracture) without associated cavity or advanced gum disease. Biting on the area of tooth fracture can cause severe sharp pains. These fractures are usually due to chewing or biting hard objects such as hard candies, pencils, nuts, etc. Cracked tooth syndrome is most common in molars and […]