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Do I have Williams syndrome?

Williams syndrome is usually diagnosed before a child is 4 years old. Your doctor will do an exam and ask about your family medical history. Then the doctor will look for facial features like an upturned nose, wide forehead, and small teeth. An electrocardiogram (EKG) or ultrasound can check for heart problems.

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Williams syndrome is a rare genetic disorder that causes a variety of symptoms and learning issues. Children with this syndrome could have problems with their heart, blood vessels, kidneys, and other organs. Their nose, mouth, and other facial features may be unique. They sometimes have trouble learning. Children with Williams syndrome will need to see many doctors throughout their lives. But with the right treatment, they can stay healthy and do well in school. Causes Babies with Williams syndrome are born without certain genes. The symptoms they have depend on the genes they're missing. For example, someone born without a gene called ELN will have heart and blood vessel problems. The genes are usually missing in the sperm or egg before they meet up to form the baby. In a small number of cases, babies inherit the genetic deletion from a parent with the condition, but it is usually a random disorder in the genes. Symptoms Williams syndrome can cause symptoms in different parts of the body, such as the face, heart, and other organs. It can also affect a child's ability to learn. Facial Features Children with Williams syndrome have unique facial features that may include: Wide forehead

Bridge of the nose is flattened

Short nose with a large tip

Wide mouth with full lips

Small chin

Small, widely spaced teeth

Missing or crooked teeth

Uneven eyes

Folds over the corners of the eyes

White starburst pattern around the iris, or colored part of the eye

Long face and neck (in adulthood)

Heart and Blood Vessels Many with Williams syndrome have problems with their heart and blood vessels. The aorta, the main artery that carries blood from the heart to the rest of the body, may be narrowed. The pulmonary arteries that carry blood from the heart to the lungs also may be narrowed. High blood pressure is common. Narrowed arteries don't let as much oxygen-rich blood reach the heart and body. High blood pressure and decreased blood flow can damage the heart.

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What is the most common symptom of men with Klinefelter syndrome?

Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility. Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person's gender.

Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility. Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person's gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender. Most often, Klinefelter syndrome is the result of one extra X (written as XXY). Occasionally, variations of the XXY chromosome count may occur, the most common being the XY/XXY mosaic. In this variation, some of the cells in the male's body have an additional X chromosome, and the rest have the normal XY chromosome count. The percentage of cells containing the extra chromosome varies from case to case. In some instances, XY/XXY mosaics may have enough normally functioning cells in the testes to allow them to father children. Klinefelter syndrome is found in about 1 out of every 500-1,000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. About half of the time the error occurs in the formation of sperm, while the remainder are due to errors in egg development. Women who have pregnancies after age 35 have a slightly increased chance of having a boy with this syndrome.

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