http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/Genetic_disorders.asp A genetic disorder is any disease that is caused by an abnormality in an individual's genome. en-us 2012-02-25T09:31:51.0000000-07:00 http://www.pediatriconcall.com/rss_media/rss_rss_Genetic_Disorders.jpg http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/Genetic_disorders.asp Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/Genetic_disorders.asp 2012-02-25T00:00:00.0000000-07:00 Klippel Feil syndrome is a syndrome that leads to fusion of at least 2 of the seven vertebrae is the cervical spine. This defect is right from birth. In addition, patients may have fusion of the vertebrae in the thoracic or lumbar spine. Patients present with short neck, reduced range of movement of the neck and a low hairline. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/kilippel_feil_syndrome.asp 2005-09-01T00:00:00.0000000-07:00 Alpha-1 antitrypsin is a protein synthesized by the liver. It acts to inhibit certain enzymes in the liver. Its level increases during infection, cirrhosis and obstruction to flow of bile. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/antitrypsin.asp 2008-08-01T00:00:00.0000000-07:00 It is a disorder marked by coma or altered consciousness due to brain damage (encephalopathy) and associated liver damage (without jaundice). http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/reyes.asp 2008-08-01T00:00:00.0000000-07:00 Gene therapy is an experimental medical intervention that involves modifying the genetic material of living cells to fight disease. It is still experimental. Goal of gene therapy is to supply cells with healthy copies of missing or altered genes. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/gene_therapy.asp 2007-03-01T00:00:00.0000000-07:00 Achondroplasia is derived from the Greek word "without cartilage formations". In patients with achondroplasia only a small amount of cartilage forms bones leading to short bones and reduced height. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/achondroplasia.asp 2007-04-16T00:00:00.0000000-07:00 The most common complication occurs in adulthood is spinal cord compression leading to paralysis of legs requiring surgery to relieve the pressure. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/achondroplasia1.asp 2007-04-16T00:00:00.0000000-07:00 Mostly Frequently Asked Question on Turner's Syndrome http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/faqs_turnersyndrome.asp 2008-08-01T00:00:00.0000000-07:00 Tuberous sclerosis is a complex genetic disorder (a disease that occurs due to some defect in the genes) that is characterized by skin lesions, nervous system affectation and renal involvement primarily. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/tuberous_sclerosis.asp 2001-05-14T00:00:00.0000000-07:00 Tuberous sclerosis primarily affects the brain, skin, eyes, kidneys, heart and bones. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/tuberous_sclerosis1.asp 2001-05-14T00:00:00.0000000-07:00 A classical picture of Tuberous sclerosis is mental retardation, epilepsy and adenoma sebaceum. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/tuberous_sclerosis2.asp 2001-05-14T00:00:00.0000000-07:00 Chil with Tuberous Sclerosis Management http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/tuberous_sclerosis3.asp 2001-05-14T00:00:00.0000000-07:00 Most people affected by tuberous sclerosis have a normal life span. Over 50% of people with tuberous sclerosis are intellectually normal. Remainder have learning disabilities to a greater or lesser extent. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/tuberous_sclerosis4.asp 2001-05-14T00:00:00.0000000-07:00 Turner’s syndrome is a genetic disorder characterized by predominantly short stature in girls. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/turner_syndrome.asp 2000-12-26T00:00:00.0000000-07:00 Since, most of the cells in patients with Turner’s syndrome have a missing X chromosome; the ovaries do not develop normally and do not function fully. As a result, they do not produce adequate amount of female hormones. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/turner_syndrome1.asp 2000-12-26T00:00:00.0000000-07:00 Girls with characteristic features of Turners syndrome can be diagnosed during infancy or early childhood. Girls without obvious features may come to attention due to lack of puberty development or short stature. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/turner_syndrome2.asp 2000-12-26T00:00:00.0000000-07:00 Once a child is diagnosis as Turners syndrome, a pediatric endocrinologist may have to be consulted for hormonal and growth problems. http://www.pediatriconcall.com/forpatients/commonchild/Genetic_disorders/turner_syndrome3.asp 2000-12-26T00:00:00.0000000-07:00