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 Proteus Syndrome Congenital Disorder


Health >> Proteus Syndrome Congenital Disorder


Proteus syndrome is a congenital disorder that leads to skin overgrowth and atypical bone development. The disease is often accompanied by tumors over half the body. The disorder was first identified by Dr. Michael Cohen in 1979 and is known to be an extremely rare condition. Since 1979, only around two hundred cases have been confirmed worldwide with estimates that about 120 people are currently affected by the condition.



 Pretzel Syndrome Gene Disorder


Health >> Pretzel Syndrome Gene Disorder


William is an eight year old child. But he is different from other children in that he has a disproportionate head setting on his shoulders. He does not have friends because he is mentally not as active as them and he does not go to school because of his poor health conditions. He has a very abnormal posture, gets seizures frequently and his mother cannot take him out with her as he urinates frequently. He also has visionary problems. When he was taken to a hospital he was diagnosed as suffering from a disease called pretzel syndrome, a single gene disorder of the LYK5 gene.



 Down Syndrome Malfunction


Health >> Down Syndrome Malfunction


Down Syndrome [DS] is a genetic malfunction that is found to affect one in every eight hundred children born. It is named after the English physician, Dr.Langdon Down who first identified it in 1887. For long DS was regarded as a condition which afflicts inexplicably. It was only in 1959 that the cause for the affliction was identified as the presence of one extra chromosome. In the natural course of the origin of a human being, the child receives 23 chromosomes each from both the parents, making the total number of chromosomes 46. However, in the rare cases that the number of chromosomes increases to 47, the child suffers from the Down Syndrome.




 Rhett Syndrome Neurodevelopmental Symptoms Hypotonia And Apraxia


Health >> Rhett Syndrome Neurodevelopmental Symptoms Hypotonia And Apraxia


Rhett Syndrome is a childhood disorder of the nervous development. A normal early development is usually followed by the loss of normal use of hand, distinctive hand movements, slow growth of head as well as the brain, abnormalities in the gait and ultimately mental retardation. The occurrence is almost entirely noticed in the females.



 Turner Syndrome Chromosomal Conditions


Health >> Turner Syndrome Chromosomal Conditions


Turner syndrome consists of several chromosomal conditions that refer to complications in females. People with this syndrome have female characteristics but are generally underdeveloped and consist of females with a different chromosomal configuration.




 Smith Lemli Opitz Syndrome Metabolism Disorder


Health >> Smith Lemli Opitz Syndrome Metabolism Disorder


Smith Lemli Opitz Syndrome is a disorder affecting the all round development and metabolism of a body. It is also known as 7-dehydrocholesterol reductase deficiency. It may result in a number of problems such as mental retardation, deformed facial features, learning difficulties and behavioral irregularities. Affecting approximately 1 in 20,000 to 40,000 the disorder is most common among Caucasians of European ancestry.



 Crigler Najjar Syndrome Infant Jaundice And Brain Damage


Health >> Crigler Najjar Syndrome Infant Jaundice And Brain Damage


Crigler-Najjar syndrome is a rare hereditary disorder in infants. It is a defect of bilirubin metabolism that leads to non-haemolytic jaundice, ultimately resulting in brain damage. The syndrome exists in two forms­­- types I and II. The type II syndrome is also known as Arias syndrome. While inheritance in type I is autonomic recessive, in type II it plays a dominant role.




 Rett Syndrome Neuro Developmental Disorder Genetic Defect


Health >> Rett Syndrome Neuro Developmental Disorder Genetic Defect


Rett syndrome is a neuro developmental disorder. It is categorized as a pervasive developmental disorder by the DSM-IV. Many scientists consider this as a wrong categorization like such disorders as fragile X syndrome, tuberous sclerosis, or Down syndrome. All the above disorders display a kind of autistic features. The symptoms of this disorder are similar to those of Angelman syndrome and autism.









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Hellp Syndrome And 2nd was written on September 07, 2008.










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