| MadSci Network: Genetics |
Hi! Down syndrome is a frequent form of mental retardation associated with characteristic morphologic features (mongolism) and many somatic abnormalities due to a number of chromosomal aberrations. The characteristic clinical features that discriminate the syndrome from other mental deficiencies were first described by John Langdon Down in 1866. The condition has typical physical features and multisystem anomalies, some of which are dermatologic. The skin lesions in this syndrome were noted by Seguin (1846), who spoke of d’idiots furfuraces. Certain dermatoglyphic features in Down syndrome that differed from control subjects were pointed out in 1939. In 1959, a chromosomal abnormality was proven to cause Down syndrome. Among the many minor abnormalities due to Down's Syndrome, one is the white patches present around the iris. This should explain the presence of white spots as you had mentioned. There are other symptoms that vary from person to person and I believe that the white hair is one of them. Other minor symptoms or abnormalities (whichever way you put it) are slight flattening of the face, minimal squaring off of the top of the ear, a low bridge of the nose (lower than the usually flat nasal bridge of the normal newborn), an epicanthal fold (a fold of skin over top of the inner corner of the eye, which can also be seen less frequently in normal babies),and a little narrowing of the palate. The above are usually observed but it cannot be stressed that there might not be any similar symptoms associated also. To know more about Down's Syndrome, I suggest you read the following links: http://www.medicinenet.com/Down_Syndrome/article.htm http://www.emoryhealthcare.org/HealthGate/11897.html You may visit the UK Down's Syndrome association website at http://www.downs-syndrome.org.uk/. Thank you, Abhishek Dey Das. Bholananda National Vidyalaya, Barrackpore. URL: http://www.freepgs.com/abhishek.
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