PDF-What causes CHARGE syndrome

CHARGE syndrome is thought to be caused by a mutation in the gene CHD7on chromosome 8 It occurs in 1 out of every 10000 births and is affects males and females at equal rates and has been diagn. This means that 1 in every 733 babies is born with this condition Although parents of any age may have a child with Down syndrome 80 are born to women under the age of 35 NICHCY Disability Fact Sheet 4 June 2010 Definition Definition Definition Defi 11 Cranial Nerves & . th. e GI System. in . CHARGE Syndrome. Dr. Kim Blake. Professor Pediatrics. IWK Health Centre and Dalhousie University. kblake@dal.ca. Navasota, Texas, 2015. Blake / Ur Family. CHARGE. The Hidden Medical Issues. Dr. Kim Blake. Professor Pediatrics. IWK Health Centre and Dalhousie University. kblake@dal.ca. !. Halifax. , Nova Scotia, Canada. No conflict of interest. Navasota, Texas, US. Cranial Nerves & . th. e GI System. in . CHARGE Syndrome. Dr. Kim Blake. Professor Pediatrics. IWK Health Centre and Dalhousie University. kblake@dal.ca. Navasota, Texas, 2015. Blake / Ur Family. Those GUT Feelings! Cranial Nerves & th e GI System in CHARGE Syndrome Dr. Kim Blake Professor Pediatrics IWK Health Centre and Dalhousie University kblake@dal.ca Navasota, Texas, 2015 Blake / Ur Family Those GUT Feelings! Cranial Nerves & th e GI System in CHARGE Syndrome Dr. Kim Blake Professor Pediatrics IWK Health Centre and Dalhousie University kblake@dal.ca Navasota, Texas, 2015 Blake / Ur Family A genetic disorder that causes delays in physical and intellectual development.. Causes of Down Syndrome. Caused by extra genetic material from chromosome 21. Prenatal Testing. Amniocentesis:. procedure in which a small sample of amniotic fluid is drawn out of the uterus through a needle inserted in the abdomen. CHARGE syndrome occurs in approximately 1:10,000-15,000 births worldwide, is extremely complex, and has varied medical and physical manifestations. It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech-- 1 CHARGE syndrome Description CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma , heart also ObjectivesRecognize the features of CHARGE syndromeIdentify the medical concerns in CHARGE syndrome CHARGE syndromeoloboma, eart defects, choanal tresia, etarded growth and development, enital abnorma Patau’s syndrome: options after a higher chance screening result pregnancyre/screeningfordownsedwardspataussyndrome . This flowchart shows your options. Afulltextdescriptionthispathway is also What is Down Syndrome?. Down syndrome is a condition in which a person has an extra chromosome. . Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. . In 1866, an English doctor named John Langdon DOWN described the characteristics of Down syndrome. . What were some of the characteristics John Langdon Down observed?. Your body is made up of TRILLIONS of cells. Each cell is a copy of a single cell that divided itself to make all the cells in your body. Your cells need instructions to create who you are. Your DNA, genes and chromosomes work together to tell your body how to form and function. .