Syndrome Directory

Mosaic Turner Syndrome is similar to Turner Syndrome in that it involves the abnormality of chromosomes in girls and accounts for 16 percent of all Turner diagnoses. In a healthy female, two X chromosomes are present in each cell. In Turner Syndrome, only one X is present or there may be two with one being malformed or missing part of its structure. This results in a failure to grow physically and develop sexually. This condition also contributes to several visible defects including a webbed neck, a low hair line at the nape, and an excessive amount of moles among others.

Turner Syndrome And Mosaic Turner Syndrome

In Mosaic Turner Syndrome, some cells may be similar to those found in Turner Syndrome, but others are found to be normal. This decreases the symptoms associated with the condition. Girls with Mosaic Turner Syndrome normally will reach normal height without growth hormone and will not have many of the physical features typically associated with Turner’s Syndrome. Even though the symptoms are not as severe, girls with this condition will normally fail to develop sexually without hormone replacement therapy and most are infertile.

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Parsonage Turner Syndrome is a frightening, sudden neurological disorder that affects the use of the shoulder and arm. While the prognosis for those afflicted with the disorder is good and most recover full motor functions of the affected area, the sudden onset of the disorder and they mystery surrounding it makes it very frightening.

Parsonage Turner Syndrome Symptoms

While the exact cause of Parsonage Turner Syndrome is unknown, the symptoms of the disorder are directly linked to the inflammation of a network of nerves that supply and control the arms, shoulders, and chest. The first sign of Parsonage Turner Syndrome is sudden and normally includes severe pain that radiates across the shoulder and upper arms. Within hours or days, the condition progresses to include weakness, muscle atrophy, and may even include paralysis of the affected area.

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Turner Syndrome is a condition with lifelong consequences that affects girls only. Nearly one out of 2,500 girls is diagnosed with the condition, and if it is not caught early, they can suffer from physical abnormalities, learning disabilities, and more.

What Causes Turner Syndrome?

While the exact cause of the syndrome is unknown, scientists do know that it is linked to female chromosomes. In a healthy female, there are two X chromosomes present, but in a female with Turner Syndrome, one of the chromosomes is malformed or missing altogether. The missing or deformed chromosome can affect the body in many ways and can manifest symptoms of varying severity depending on how many of the body’s cells are affected by the defect.

A girl that is suffering from Turner Syndrome will typically be stunted in growth. She will be short in stature and will fail to transition through puberty. This is because many of the hormones responsible for growth and development are not present in girls with Turner Syndrome. The female hormone estrogen, for instance, is produced by the ovaries and is responsible for all phases of puberty including breast development, menstruation, and fertility. Without this vital hormone, females will not develop sexually and will not be able to have children.

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