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Achondroplasia (Ah-con-droe-pla-see-ah) is the most common form of dwarfism, or abnormally short build. People with Achondroplasia were born with a problem in their genetics that causes their bones not to form properly. Their bones are shorter and thicker than in is usual because their cartilage does not have enough calcium. Achondroplasia mainly effects arms and legs, usually leaving the skull and spine a normal size. People with Achondroplasia will live as long as everyone else should they survive being a baby. Babies with Achondroplasia sometimes find it hard to breathe. Achondroplasia causes no mental problems, so people with this disorder are just as intelligent as people without it. There are no illnesses that are more likely to occur in someone with Achondroplasia, but everyday life can sometimes be a challenge as they are always too short to reach many things. How is the disorder inherited?: Achondroplasia is inherited in an Autosomal dominant manner. This means that the phenotype is shown in people who are heterozygous, or have one copy of a particular gene. So the parents of someone with Achondroplasia do not always have the disorder too. In fact, 80% of the people with Achondroplasia are not born of parents with the disorder. Genetic Testing: Babies can be tested to see if they will be born with Achondroplasia. The only way medicine has discovered so far to accurately test for the disease is called Molecular Genetic Testing. This detects any mutation in the gene that, if there is a fault, can be responsible for Achondroplasia. This gene is called FGFR3. The test is 90% percent effective, and is available in many pregnancy clinics. Treatments: Achondroplasia cannot be cured. Everyone who is born with the disorder will live their lives with their short arms and legs. The only way Anchondroplasia could be cured is by genetically engineering babies with a high risk of being born with the disorder, and such medical advances as the ability to safely do this are still only in their earliest stages. Genetic Counseling: Genetic counseling is a service that informs people and families about a genetic disorder. Genetic councilors provide advice and support to help people with disorders live a rich and full life. Should a person with Achondroplasia seek help, genetic councilors may be able to help them: http://www.achondroplasia.co.uk/, Moderator unknown, last update 14 July 2003 http://www.geneclinics.org/profiles/achondroplasia/details.html , Clair A Francomano, last update 31 July 2003. http://www.drugs-db.com/health/a/achondroplasia/achondroplasia-treatments.htm, moderator unknown, last update 15 December 2003. Basic Life Sciences, JG Hall, 1988, Medline publishers.
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