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Review of Disease 16
Congenital
Question | Answer |
---|---|
Turner syndrome | chromosome disorder in females missing X chromosome |
cystic fibrosis | damage to lungs with thick secretions, nutritional problems and effect on other organs |
Down syndrome | trisomy; extra chromosome in 21st set |
Klinefelter syndrome | chromosome disorder causing testicular failure/infertility |
Hirschsprung disease | absence of peristalsis causing obstruction of bowel |
pyloric stenosis | thick or narrow area at distal end of stomach and start of duodenum stopping the emptying of food from the stomach |
cryporchidism | failure of the testis to descend into the scrotum from the abdominal cavity |
osteogenesis imperfecta | weak bones / easily fractured |
hydrocephalus | excess fluid in the ventricles of the brain |
cerebral palsy | brain disorder can be caused by birth trauma |
patent ductus arteriosus | ductus arteriosis fails to close after birth allowing blood flow between pulmonary artery and aorta |
hemophilia | clotting disorder |
memingocele | herniation of meninges through spinal cord |
spina bifida | neural tube defect |