Structural abnormalities Flashcards
Occur when part of an individual chromosome is deleted, was translocated, duplicated, or inverted
Structural abnormalities
Occur as an accident when the egg or the sperm is formed or during the early developmental stages of the fetus
Chromosomal abnomalities
Congenital defect in which part of the vertebral column is absent or there is incomplete closure
Spina bifida
Under development of a tissue, organ, or body part
Hypoplasia
Failure of a tissue or organ to develop normally
Aplasia
A congenital physical anomaly in humans and animals resulting in supernumerary fingers and/or toes
Polydactylism
A congenital condition in which the proximal portion of the limbs are poorly developed or absent
Phocomelia
Congenital absence of one or more limbs
Amelia
Congenitally malformed palate with a fissure along the midline
Cleft palate/ lip
A deficiency in the way one sees color. Difficulty distinguishing certain colors, such as blue and yellow or red and green
Color blindness
Malformed dilated blood vessels in the skin. Lesions are non-cancerous and appear as blotches of red or purple skin discoloration on any part of the body
Vascular nevis
A genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Typically associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features
-Trisomy 21
Downs syndrome
Abnormal protrusion of part of a n organ or tissue. Organ pushes through an opening in the muscle or tissue that holds it in place
Congenital hernia