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,… In patients with this kind of disorder, their chromosome pattern is XXY pattern. 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. Almost one-half of men with KS have taurodontism (pronounced tawr-oh-DAWNT-iz-uhm), a dental problem in which the teeth have larger-than-normal chambers for holding pulp (the soft tissue that contains nerve endings and blood vessels) and shorter-than-normal tooth roots, both of which make it easier for tooth decay to develop. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. This can be seen on dental x-rays. Visit the group’s website or contact them to learn about the services they offer. 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. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. He remains well aware of the challenges. In many cases, it's only detected if a man with the condition undergoes fertility tests. “People with Klinefelter syndrome have executive function issues, so things, like getting to class on time and managing time … The diagnosis can be confirmed by checking a sample of blood for the presence of the extra X chromosome. 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). Possible features, which are not always present, may include: Most boys and men with Klinefelter syndrome will not be significantly affected and can live normal, healthy lives. Klinefelter's syndrome is named after Harry F. Klinefelter (cline-felter) who first described the syndrome in the USA in 1942. These resources provide more information about this condition or associated symptoms. Do you have updated information on this disease? Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. The results of one study on non-. Klinefelter Syndrome affects 1 in 500 male conceptions and is therefore the most common sex chromosome abnormality. This can be seen on dental x-rays. Educational interventions: As children, many people with Klinefelter syndrome qualify for special services to help them in school. Often males affected by this genetic condition experience reduced testosterone production due to the small size of testicles and penis. Questions sent to GARD may be posted here if the information could be helpful to others. 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. At the time of diagnosis, a complete dental and orthodontic examination will screen for any such abnormalities. Normally, males have the XY chromosome pattern. There's no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot. Infertility tends to be the main problem, although there are treatments that can help. But the risk of a woman having a son with Klinefelter syndrome may be slightly higher if the mother is over 35 years of age. You can help advance There is also evidence that it can help with learning and behavioural problems. rare disease research! 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. If you do not want your question posted, please let us know. 1. Klinefelter syndrome (KS) is the most frequent chromosome disorder in men, exhibiting a karyotype of 47,XXY. Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. In the countenance of the patient, both eyes were far apart from each other. The X chromosome is not a "female" chromosome and is present in everyone. Klinefelter syndrome is caused by an additional X chromosome. Klinefelter's syndrome; XXY syndrome; 47,XXY syndrome; Klinefelter's syndrome; XXY syndrome; 47,XXY syndrome; XXY trisomy, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos. 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. Frequent chromosome disorder in men, exhibiting a karyotype of 47, XXY sometimes... 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