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Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
Because Turner syndrome can result in developmental concerns and medical complications, several specialists may be involved in screening for specific conditions, making diagnoses, recommending treatments and providing care.
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Carpal tunnel syndrome is one of the most common hand conditions. It is caused by pressure on the median nerve in the carpal tunnel of the wrist. The carpal tunnel is a narrow passageway surrounded by bones and ligaments on the palm side of the hand.
Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome. Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays.
In triple X syndrome, a female has three X chromosomes. Many girls and women with triple X syndrome don't experience symptoms or have only mild symptoms. In others, symptoms may be more apparent — possibly including developmental delays and learning disabilities.
Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder.
Turner syndrome. Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. A female inherits an X chromosome from each parent. A girl with Turner syndrome has only one fully functioning copy of the female sex chromosome rather than two. Growth hormone deficiency
This can be a sign of genetic conditions such as mosaic Turner syndrome. Other people with primary ovarian insufficiency have X chromosomes that are fragile and break. This is called fragile X syndrome.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a condition caused when a small part of chromosome 22 is missing. This deletion causes several body systems to develop poorly. The term 22q11.2 deletion syndrome covers terms once thought to be different conditions.