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Short stature is the most common feature of Turner syndrome, and it starts about age 5 or so. The ovaries develop at first, but egg cells die early and the majority of ovarian tissue degenerates before birth. Through young adulthood, only a small number of females with Turner syndrome have normal ovarian function. About 30% of female Turner syndrome sufferers have extra folds of skin on the neck, a thin hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal anomalies, or kidney disease. A heart defect can be present in one third to one-half of people with Turner syndrome, such as a narrowing of the large artery leaving the heart or abnormalities of the valve that connects the aorta with the heart. Turner syndrome children and women have normal intelligence.
Many children with Noonan syndrome have a short neck, and both children and adults with excess neck skin and a low hairline at the back of the neck may have excessive neck skin and a low hairline at the back of the neck. Short stature is present in between 50 and 70% of people with Noonan syndrome. Individuals with Noonan syndrome have either a sunken chest or a protruding chest. Most people with Noonan syndrome have some sort of critical congenital heart disease. A narrowing of the valve that regulates blood flow from the heart to the lungs is the most common heart abnormality in these people. During menstruation or childbirth, women with Noonan syndrome with a bleeding disorder have elevated bleeding. Many adolescents with Noonan syndrome have delayed puberty. Testes that have undescended in males with Noonan syndrome are undescended, which may contribute to infertility later in life. Some people with Noonan syndrome may have delayed puberty, but most have normal puberty and fertility. Noonan syndrome can cause a variety of other signs and symptoms. Most children diagnosed with Noonan syndrome have normal intelligence, but a few have special educational needs, and some have intellectual impairment. Infants with Noonan syndrome may be born with puffy hands and feet caused by a fluid buildup, which can go away on its own. Some people with Noonan syndrome, especially those that involve the blood-forming cells, have cancer. Children with Noonan syndrome have an eightfold higher risk of experiencing leukemia or other cancers than those with age-matched peers, according to the research.
Critical congenital heart disease is a medical disorder that occurs from birth and refers to a group of severe heart abnormalities. CCHD stops the heart from pumping blood efficiently or decreases the amount of oxygen in the blood. Individuals with CCHD typically need surgery right after birth. Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms become apparent soon. However, most people with CCHD now live past infancy due to advances in early detection, diagnosis, and therapy. CCHD patients have few health issues later in life than others who have been treated CCHD. However, long-term consequences of CCHD may include delayed growth and reduced stamina during workouts. Adults with these heart abnormalities, heart disease, sudden cardiac arrest, stroke, and premature death are all at an elevated risk of abnormal heart rhythms, heart arrest, stroke, and premature death. Each of the heart abnormalities associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects can be traced to internal organs within the heart, such as the two lower chambers of the heart or the valves that control blood flow through the heart. People with CCHD have one or two specific heart abnormalities. The bronchial artery, double-outlet right ventricle, D-transposition of the great arteries, Ebstein aorta, hypoplastic left heart syndrome, suspended aortic arch, pulmonary truncus, and truncus arteriosus are all examples of CCHD's cardiovascular abnormalities.
The presence of an additional X chromosome in each of a female's cells, as well as triple X syndrome or 47,XX, is characterized by Trisomy X syndrome. The majority of females with trisomy X have normal sexual growth and are able to have children. Trisomy X is characterized as an elevated risk of learning disabilities and delayed development of speech and language skills.
Source link: https://medlineplus.gov/genetics/condition/trisomy-x
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