Genetics Lecture 5 - Dysmorphology and Tetarogens Flashcards
(14 cards)
Define birth defect. What percentage of children have them?
BD is a condition at birth which requires medical, surgical, or cosmetic intervention. 3% of children are Dxed at birth and 4% are Dxed by age 1.
Define syndrome.
A pattern of multiple anomalies thought to be pathogenetically related and with a known genetic cause.
Define sequence.
A pattern of multiple anomalies derived from a single known or presumed prior anomaly or mechanical factor.
Name two sequence disorders.
Pierre Robin and Potter sequence.
Define malformation.
A morphologic defect of an organ, part of an organ, or larger region of the body resulting from an intrinsically abnormal development process. The abnormal tissue growth begins during blastogenesis.
Name two examples of malformations.
Cleft lip, syndactyly.
Define deformation.
An abnormal form or position of a part of the body caused by non-disruptive mechanical forces.
Name one example of a deformation.
Hip dysplasia due to prolonged breech position
Define disruption.
A morphologic defect resulting from a breakdown of, or interference with an originally normal development process.
Cite one example of disruption.
Amniotic band syndrome resulting in finger amputation. ONLY ONE YOU NEED TO KNOW!
Define dysplasia.
Abnormal cellular organization or function within a specific tissue type throughout the body, resulting in clinically apparent structural changes.
Name two examples of dysplasia.
Osteogenesis imperfecta (brittle bone disease), Hemangioma.
What is a teratogen?
A substance that can cause fetal birth defects.
Define association.
A phenotype that has no known genetic cause but has certain genetic markers that may be associated with it.
