In the countenance of the patient, both eyes were far apart from each other. Visit the group’s website or contact them to learn about the services they offer. About one of every 500 males has an extra X chromosome, but many don't have any symptoms. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Klinefelter syndrome is an under diagnosed chromosomal disorder with important challenges for health and medical management. But men with Klinefelter syndrome are at a slightly increased risk of developing other health problems, including: These problems can usually be treated if they do occur and testosterone replacement therapy may help reduce the risk of some of them. Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. Every male cell consists of 44 autosomes and XY sex chromosome. Abstract. This is called taurodontism. Klinefelter syndrome also increases the risk of: Attention deficient hyperactivity disorder (ADHD) Autoimmune disorders, such as lupus, rheumatoid arthritis, and Sjögren syndrome; Breast cancer in men; Depression Klinefelter syndrome is a genetic condition that affects males physical, behavioral, and cognitive development and functioning. If you have a son with the condition, the chances of this happening again are very small. This syndrome is found in 1 out of 1000 males. “People with Klinefelter syndrome have executive function issues, so things, like getting to class on time and managing time … Inclusion on this list is not an endorsement by GARD. The extra genetic information may either be carried in every cell in the body or it may only affect some cells (known as mosaic Klinefelter syndrome). But in Klinefelter syndrome, a boy is born with an extra copy of the X chromosome (XXY). Do you have updated information on this disease? Enlarged teeth with a thinning surface is very common in Klinefelter syndrome. Klinefelter syndrome is a chromosomal disorder wherein there is an extra X chromosome in the cells of the affected males. Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. Try our interactive tool for help finding information, services, experts, financial aid, and more! The presence of a Y chromosome denotes male sex. If you do not want your question posted, please let us know. Of the 6 Klinefelter's syndrome patients with taurodontism, 2 were affected bilaterally (Fig.) Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Klinefelter Syndrome affects 1 in 500 male conceptions and is therefore the most common sex chromosome abnormality. We experienced a case of Klinefelter's Syndrome with congenital heart disease in a 3-year,8month old boy. Klinefelter syndrome is not necessarily anything serious, but treatment can help reduce some of the symptoms if necessary. Klinefelter syndrome is caused by an additional X chromosome. You should see a specialist in children's hormones (a paediatric endocrinologist) at this time. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual. Taurodontism may occur as one of many dentofacial manifestations of KS and can be detected before development of other physical characteristics. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Chromosomes are packages of genes found in every cell in the body. We remove all identifying information when posting a question to protect your privacy. Klinefelter syndrome results in the formation of sperm or the egg and people with this syndrome are prone to tremors, osteoporosis and autoimmune disorders. Variants of Klinefelter syndrome (such as 48,XXXY, 49,XXXXY) are much rarer, occurring in 1 in 50,000 to 1 in 85,000 or fewer newborns. We want to hear from you. Identification of patients with taurodontic teeth may lead to early recognition of the disorder and could substantially improve quality of life. Next review due: 20 May 2022, inability to have children naturally (infertility), underactive thyroid gland (hypothyroidism), in babies and toddlers – learning to sit up, crawl, walk and talk later than usual, being quieter and more passive than usual, in childhood – shyness and low self-confidence, problems with reading, writing, spelling and paying attention, mild, in teenagers – growing taller than expected for the family (with long arms and legs), broad hips, poor muscle tone and slower than usual muscle growth, reduced facial and body hair that starts growing later than usual, a small penis and testicles, and, autoimmune disorders (where the immune system mistakenly attacks the body), such as, speech and language therapy during childhood to help with speech development, educational and behavioural support at school to help with any learning difficulties or behaviour problems, psychological support for any mental health issues. Klinefelter syndrome occurs if boys are born with an extra X chromosome. Nevertheless, frequent characteristics are small testes, azoospermia and hypergonadotropic hypogonadism. Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. This paper presents a seven-year old patient with Klinefelter Syndrome with dental treatment needs. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. In Turner Syndrome it is common to see abnormal dental health development. Generally, a primary molar tooth or body of molar is long, but for Taurodont teeth, the marrow space gets longer, and the teeth have short roots. Klinefelter syndrome, also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males. About 40% of patients have taurodontism, a dental finding characterized by enlargement of the molar teeth by an extension of the pulp. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. 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. In many cases, it's only detected if a man with the condition undergoes fertility tests. By now various dental features in these patients have been reported but to our knowledge this is the first report of multiple impacted teeth in the Klinefelter syndrome. Due to the wide discrepancy of incidence of taurodontism reported in literature (0.04%-48.0% in normal population; 12.5%-88.0% … These resources can help families navigate various aspects of living with a rare disease. He remains well aware of the challenges. Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. Klinefelter syndrome is one of the unique developmental disabilities that mainly affect males. This is called taurodontism. Genetics Education Materials for School Success (GEMSS), National Human Genome Research Institute's. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311, Babies with the 47, XXY form of Klinefelter differ little from healthy children. Skeletal malocclusion is caused by distortion of proper mandibular and/or maxillary growth during fetal development which, if untreated, may lead to dental deformities, bruxism, teeth-crowding, trismus,… Have a question? Normally a person, whether male or female, has a total of 46 chromosomes in … and 4 unilaterally. Klinefelter syndrome is quite common, affec… In this variant of the multirooted human teeth in which the body of the tooth is increased at the expense of the roots, as regularly seen in cattle, the teeth characteristically have a prismatic shape (Heider and Wedl 1869). At the time of diagnosis, a complete dental and orthodontic examination will screen for any such abnormalities. (Y Komatz, 1978) T… Educational interventions: As children, many people with Klinefelter syndrome qualify for special services to help them in school. Boys and men with Klinefelter syndrome are still genetically male, and often will not realise they have this extra chromosome, but occasionally it can cause problems that may require treatment. http://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx, http://ghr.nlm.nih.gov/condition=klinefeltersyndrome, http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm, http://emedicine.medscape.com/article/945649-overview, http://rarediseases.org/rare-diseases/klinefelter-syndrome/, http://ghr.nlm.nih.gov/condition/klinefelter-syndrome. 1. This section provides resources to help you learn about medical research and ways to get involved. Several forms of therapy such as physical, speech, occupational, behavioral, mental health, and family therapy can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone; speech and language problems; or low self-confidence. This can be seen on dental x-rays. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Results: Taurodont teeth were observed in 2 of the 16 Klinefelter's patients (12.5%) and in 2 of 100 normal males (2.0%). Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. Many boys and men do not realise they have it. Often males affected by this genetic condition experience reduced testosterone production due to the small size of testicles and penis. Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells. This can be seen on dental x-rays. Having a more normal testosterone level can help affected people develop bigger muscles, a deeper voice, and facial and body hair, and may also increase sexual desire, enlarge the. Regular exercise is also likely to help. These are named either X or Y. This can be seen on dental x-rays. If you or your son has been diagnosed with Klinefelter syndrome, you might find it useful to find out more about it and get in touch with others affected by it. You can help advance Living with a genetic or rare disease can impact the daily lives of patients and families. Normally, males have the XY chromosome pattern. These resources provide more information about this condition or associated symptoms. It is caused by the development of one or more copies of the X chromosome in the cells. The in-depth resources contain medical and scientific language that may be hard to understand. There is also evidence that it can help with learning and behavioural problems. Infertility tends to be the main problem, although there are treatments that can help. Klinefelter syndrome is not directly inherited – the additional X chromosome occurs as a result of either the mother's egg or the father's sperm having the extra X chromosome (an equal chance of this happening in either), so after conception the chromosome pattern is XXY rather than XY. Klinefelter's syndrome is named after Harry F. Klinefelter (cline-felter) who first described the syndrome in the USA in 1942. Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. See your GP if you have concerns about your son's development or you notice any troubling symptoms of Klinefelter syndrome in yourself or your son. Klinefelter syndrome (KS) is the most frequent chromosome disorder in men, exhibiting a karyotype of 47,XXY. In patients with this kind of disorder, their chromosome pattern is XXY pattern. The X chromosome is not a "female" chromosome and is present in everyone. 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