![]() ![]() a region where the two arms connect, called the centromere.They can be found in the nucleus of our cells. abnormal facial features, such as downwardly slanting eyelid folds, widely spaced eyes, and a small lower jawĬES is a genetic disorder that occurs when there’s a problem with a person’s chromosomes.Ĭhromosomes are structures that carry our genetic information.cleft palate (incomplete closure of the roof of the mouth).biliary atresia (when the bile ducts fail to develop or develop abnormally).skeletal defects, such as scoliosis (curvature of the spine), abnormal fusion of certain bones in the spinal column (vertebral fusions), or absence of certain toes.intellectual disabilities, which are usually mild.reproductive tract defects, such as underdevelopment of the uterus (females), absence of the vagina (females), or undescended testes (males).kidney defects, such as underdevelopment of one or both kidneys, absence of a kidney, or the presence of an extra kidney.small or narrow anal opening (anal stenosis).other eye abnormalities, such as strabismus (crossing of the eyes) or having one abnormally small eye (unilateral microphthalmia).Surgery must correct it.Ībout two-fifths of people with CES have these three symptoms, referred to as the “classic triad of symptoms.” However, every case of CES is unique. This is an ear defect that causes small growths of skin (tags) or slight depressions (pits) in front of the ears. Severe coloboma may result in vision defects or blindness. ![]() This occurs when a fissure in the lower part of the eye fails to close during early development, resulting in a cleft or gap. For others, the symptoms are so mild that the syndrome may never actually be diagnosed. Some people may develop only a few features and symptoms. People with CES may have problems with the: ![]()
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