Char syndrome: A genetic disorder characterized by patent ductus arteriosis and unusual facial features including a long philtrum (increase in the distance between the nose and upper lip), down-slanting palpebral fissures (eye slits), and thick lips as well as incurving fifth fingers.
The syndrome is inherited as an autosomal dominant trait. The gene responsible for it is in chromosome 6p12. The gene is called TFAP2B. It is a transcription factor expressed in neuroectoderm during embryonic development.
The disorder was first described in 1978 by F. Char as “peculiar facies with short philtrum, duck-bill lips, ptosis, and low-set ears.”
Charbon: Known also as anthrax, charbon is a serious bacterial infection. It is not primarily a human disease but rather an infection of animals. Cattle, sheep, horses, mules, and some wild animals are highly susceptible. Humans (and swine) are generally resistant to anthrax. Anthrax can take different forms. With the lung form of the disease. […]
- Charcot-Marie-Tooth disease
A genetic disease of nerves that is characterized by progressively debilitating weakness, particularly of the limbs. The foremost feature is marked wasting of the extremities, particularly in the calves, resulting in ‘stork legs.’ The disease usually weakens the legs before it weakens the arms. Pes cavus (deformity of the foot) is often the first sign […]
- Charcot-Wilbrand syndrome
Charcot-Wilbrand syndrome: Loss of dreaming after a stroke. In more technical terms the syndrome is characterized by visual agnosia and the inability to revisualise images. Named for the French founder of modern neurology Jean-Martin Charcot (1825-1893) and the German neuro-ophthalmologist Hermann Wilbrand.
- Chargaff rule
Chargaff rule: The rule that in DNA there is always equality in quantity between the bases A and T and between the bases G and C. (A is adenine, T is thymine, G is guanine, and C is cytosine.) Named for the great Austrian-American biochemist Erwin Chargaff (1905-2002) at Columbia University who discovered this rule. […]
- CHARGE association
CHARGE association: A constellation of congenital malformations (birth defects). The name of the condition is an acronym of some of the most frequent features: C = Coloboma (cleft) of the eye (80% of cases) and Cranial nerve abnormalities, H = Heart malformation, A = Choanal Atresia (blockage of the nasal passageways) (58% of cases), R […]