CHARGE Syndrome

<h1>CHARGE Syndrome</h1>

by Dose

<div align=justify>The term <A href="http://www.human-diseases.com/human-6diseases-97.html">CHARGE SYNDROME</A> was created to describe a birth defect that had been recognized in children. CHARGE stands for: Coloboma (eye), Heart defects of any type, Atresia (choanal), Retardation (of growth and/or development), Genital anomaly, and Ear anomaly. It was recommended that diagnosis of the syndrome be based on the presence of four of these physical features. Physicians have recognized that this definition for diagnosis do not take into account many other physical characteristics of CHARGE syndrome, or the fact that some children with the syndrome did not meet the criteria for diagnosis. In addition, a gene associated with CHARGE syndrome has been identified on chromosome 8. Although it is now known that CHARGE syndrome is a complex medical syndrome caused by a genetic defect, the name has not changed. CHARGE syndrome occurs in approximately 1 in 10,000 births worldwide, and usually the infant is the only child in the family with the syndrome. Symptoms of The <A href="http://www.human-diseases.com">Disease</A>: Some of the most common features or birth defects are: * Coloboma of the eye (80-90 %) - a fissure (crack) usually in the back of the eye. One or both eyes may also be too small or missing. * Choanal atresia (35-65%) - The back of the nasal sinuses on one or both sides is narrowed (stenosis) or doesn't connect with the back of the throat (atresia). * Cranial nerve abnormality – Missing or decreased sense of smell (90-100 percent), difficulty swallowing (70-90%), facial paralysis (palsy) on one or both sides (50-90%). * Heart defect (75%) - Different types of heart defects may occur. The most frequent type is a hole in the heart. * Growth retardation (80%) - This is first detected when the infant fails to grow normally in the first six months of life. It is due to growth hormone deficiency and/or feeding difficulty. The child’s growth tends to catch up after infancy. * Mental retardation (70%) – IQ may range from normal to severe retardation. * Underdeveloped genitals (male 80-90%, female 15-25%) * Ear abnormalities (95-100%) - The ear on the outside is malformed. Problems in the inner ear, such as abnormal semicircular canals or nerve defects, may result in deafness (60-90%). </div>

Article source: <a href="http://www.ArticlePros.com/Health-and-Fitness/Childrens-Health/article-73505.html">ArticlePros.com</a>