Rett Syndrome: Important to Diagnose Imagine this‚ you are enjoying the Christmas holiday at your grandparents with your aunts‚ uncles‚ and cousins. You think nothing of it because it is a completely normal thing to do. This is the first year all of my cousins were together in about three years. I introduced my boyfriend‚ Devin‚ to my other cousins he hadn’t met yet. As we were talking‚ I grabbed a plate of snacks when my five year old cousin walks up to me. She did not say anything just stared
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Introduction: Hurler Syndrome (MPS-I)‚ otherwise classified as Mucopolysaccharidosis‚ is the most severe form of this disease and is caused by cells being unable to break down dermatan sulfate and heparan sulfate during regular metabolism(Laberge‚ 2010). The build up of these two by-products disturbs regular cell functionality and this may cause damage within the tissues of organs (Laberge‚ 2010). Two major symptoms found within an individual with Hurler Syndrome are skeletal deformities and
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Sotos Syndrome‚ Pediatric Sotos syndrome is a disorder that results in increased growth during childhood‚ clumsiness‚ and delay in mental development. Over time‚ many children with Sotos syndrome catch up in mental development. Physical growth eventually slows down. By puberty‚ most children with Sotos syndrome are similar in size to other children their age. Most children with this disorder grow up and lead normal lives. CAUSES The cause of Sotos syndrome is a mutation in a gene. The gene
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the inside. The article called “Indoor Pollution and Sick Building Syndrome Symptoms”‚ by Chi-Shan
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Genetic Project: Down Syndrome What is Down Syndrome? Down Syndrome is a chromosomal disorder where a child is born with an extra partial or full chromosome 21‚ thus leading to the over-expression of many genes present on this extra chromosome. Therefore‚ it is neither dominant nor recessive. Down Syndrome affects about 1 in 700 babies born‚ making it one of the most common genetic birth defects in the United States. There are actually 3 different types of Down Syndrome‚ Trisomy 21 (Nondisjunction)
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Jacobs Syndrome Jacobs Syndrome‚ also known as XYY Syndrome‚ is a rare genetic disorder which affects males due to an extra Y chromosome. Males with this syndrome are sometimes called super males. Klinefelter’s syndrome with an extra X-chromosome (47‚XXY) and Turner’s syndrome with lack of X-chromosome material (45‚X) have been named after the physicians who first described the syndromes in 1942 and 1937. When Sandberg and co-wokers in 1961 found the chromosome constitution 47‚XYY‚ the name became
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Aarskog Syndrome Description Aarskog syndrome (also known as Aarskog–Scott syndrome‚ faciodigitogenital syndrome‚ shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person’s height‚ muscles‚ skeleton‚ genitals‚ and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately‚ Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born
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Rett’s Syndrome What is Rett syndrome? Rett’s syndrome is a neurodevelopmenal disorder that for the most part only affects women. Infants with Rett syndrome seem to grow and develop normally at first‚ but then stop developing and even lose skills and abilities. Rett’s Syndrome can be summed up by normal early growth and development followed by a slowing of development‚ loss of purposeful use of the hands‚ distinctive hand movements‚ slowed brain and head growth‚ problems with walking‚ seizures
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Central Congenital Hypoventilation Syndrome What is CCHS? Many people around the world stop breathing when they go to sleep. Why? It’s because they have a syndrome called Central Congenital Hypoventilation Syndrome or Ondine’s Curse. What is this? Congenital central hypoventilation syndrome (CCHS) is a rare syndrome‚ present from birth‚ and is defined as the failure of automatic control of breathing.. Some may only have apnea when asleep‚ but in some severe cases they may experience apnea while
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Prognosis The prognosis for Williams Syndrome is not bright in some areas and bright in others. Since there is no cure for this genetic disorder‚ treatment in no way can change the prognosis unless it is to alleviate a symptom of this disorder. Cardiovascular symptoms aside‚ individuals suffering from this disorder can live a healthy and long life if properly cared for and nurtured‚ but this is very rare. There are several ways to discuss the prognosis for this disorder and they are: life expectancy
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