Having a Down syndrome is such a difficult situation for an individual to have. They have slow physical and mental capabilities that lead them to discrimination. Physical features of having a Down syndrome. Including flattening of the head; slanting of the eyelids; a gap between the first and the second toes; a depressed nasal bridge; relatively small ears‚ mouth‚ hands and feet; short stature; decreased muscle tone and loose ligaments among others. Not every child with Down syndrome has all of these
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Charge Syndrome Introduction Charge Syndrome is a specific collection of non-randomly occurring congenital anomalies. The acronym CHARGE actually stands for the major features of this syndrome. The letter C stands for coloboma of the eye‚ H is heart defects‚ A stands for atresia of the choanae‚ R is retarded growth and development‚ G stands for genital abnormalities and lastly letter E stands for ear anomalies and/deafness. The cause of this syndrome may be genetically heterogeneous‚ but
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Down Syndrome is a chromosomal abnormality and probably the most common genetic condition‚ occurs in approximately one in every eight hundred to one thousand live births or accounts for approximately 5-6 per cent of intellectual retardation. Although‚ most students with Down’s Syndrome are between the mild to moderate range of mental retardation. Initially‚ Down’s Syndrome was given the label of Mongolism due to the physical characteristics of the disorder. A student with Down’s Syndrome is usually
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Down Syndrome Thesis: When someone sees a child or an adult with Down syndrome they automatically single them out‚ every person in this world is different‚ with a disability or with out‚ but that doesn’t mean they need to be treated differently. I. Causes A. Mental Disorder B. Mothers age C. Not inherited D. Most common E. Amniocentesis II. Symptoms A. Problems at birth B. Size C. Other issues D. Facial features III. Severities A. Ranges B. Trisomy 21 C. Mosaic D. Mosaic
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Turner Syndrome Turner syndrome affects 3% of all females prior to birth‚ with only around 1% of these ‘in utero’ cases surviving to term; it is not inherited from either parent‚ but purely a ‘chance’ mutation. Despite this‚ it has become the most common genetically determined abnormality amongst females‚ and can have detrimental effects on systemic wellbeing throughout life. Turner Syndrome is a sex-linked genetic disorder which only affects females‚ and can present symptoms in several organ
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Kartagener’s syndrome is an autosomal recessive disorder affecting the cilia within the body. Autosomal recessive means that one or more of both the parents’ genes responsible for encoding the cilia’s structure are mutated. This essay will focus on the etiology‚ clinical manifestations and anatomic alterations while also exploring diagnostic and treatment modalities. Cilia are the tiny hair-like structures found in many organ systems including the respiratory and reproductive systems. It was diagnosed
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Rett Syndrome for Girls Only Rett syndrome is very rare neurological disorder that affects the brain. The disorder primarily effects girls only‚ but there has been reported cases of males with the disorder. The disorder is rare‚ it effects one in every 10‚000 to 15‚000 females‚ in all racial and ethnic groups. Rett syndrome effect one in every 100‚000 males. Rett Syndrome impairs the child’s speech‚ motor functions‚ daily activities‚ and respiratory functions. Rett Syndrome is usually diagnosed
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Williams syndrome also recognized as Williams-Beuren syndrome is a genetic disorder caused by a deletion of more than twenty five genes from chromosome 7. Although Williams syndrome is often non-hereditary‚ the chances of the syndrome being passed on if an individual with Williams syndrome has a child are fifty percent. Individuals born with Williams syndrome often possess distinctive facial features which make the syndrome easily recognized. These features include wide spaces between their teeth
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Down Syndrome (DS) is the most common chromosomal condition in the United States‚ affecting about 1 in every 700 babies (CDC). This condition is also known as Trisomy 21‚ due to there being an extra copy of chromosome 21 (CDC). This extra chromosome results in changes in the development of the brain and body‚ which in turn can lead to cognitive and physical challenges (CDC). Some hallmark physical characteristics include almond shaped eyes that slant up‚ smaller hands and feet‚ shorter stature‚
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Angelman Syndrome In America‚ about 6 million students are known to have some kind of intellectual disability. Intellectual disabilities are not always determined by the IQ level of an individual but rather how they react to their peers‚ self-perception‚ problem solving‚ personal care‚ etc.. It could develop before birth‚ after birth or even in one’s later life. Usually‚ these disabilities are caused by mutation in one of the chromosomes of a fetus. For example‚ some syndromes are the result of
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