Patho chapter 5 (5senteces or less)

cleft lip and cleft palate

is a mulitfactoral inheriteience from exposure of teratogens in combination with the genetic or environmental factors. Is usually developed during the fifth week of pregnancy and fuse during the eighth and twevelth week, normally shown in the front and sides of face. Some obvious signs are difficulties in feeding, decrease in breathing or loud breathing. It’s usually diagnosed at birth but can be diagnosed in an ultrasound or genetic testing. Treatments can include surgical correction, or speech therapy.

Neural tube defects

is a congenital malformation defect of the brain and spinal column due to failure to close neural tube after 28 days post conception. This is mulitifactoral and causes exposure to teratogens. This occurs in 1-2/1000 pregnancies. It can be isolated or syndromic and classified as open or closed. When open it can be spina bifida and when closed it is covered by the skin.

Down syndrome

is also known as trisomy 21 and is a chromosomal abnormality causing intellectual disability, and certain facial features. Causes can be from the age of the mother at delivery, environmental factors like radiation. There is an error in nondisjunction which results in chromocomal addition or karyotype of 47 chromosomes rather than the normal 46. Complications can be early death, increased risk of acute or chronic infections. Some treatments can include surgical correction of heart defects or plastic surgery, therapy or thyroid hormone replacement.

Kinfelter syndrome

will occur when an extra x chromosome creates an XXY sex chromosome only affecting males. It usually becomes noticeable at puberty and can result in infertility. It is not inherited but can occur randomly as a result of mitotic disjunction in parental gametogenesis or mitotic nondisjunction increasing maternal age. Complications can include learning disabilities such as dyslexia, autoimmune disorders and breast cancer. Treatments can be mastectomy, psychological counseling or speech therapy.

Turner syndrome

will occur only in females when only one X chrmosome is lost to nondisjunction during mitosis. Some signs and symptoms can be a female is short with swollen hands and feets, a webbed neck and sterility. It can also cause heart defects, most patients will either have an average or slightly below interlligence. It is diagnoses as chromosome analysis and should rule out gonadal dysgenesis, noonans syndrome. Some treatment options can be hormonal therapy