Congenital Abnormalities Flashcards
What is a congenital anomaly ?
An anomaly that affects a body part or physiologic function and is present at birth, caused by the abnormal ontogenic development of the fetus
Congenital malformation ?
A congenital anomaly of the structure of some body part
Define a teratogene
An agent that is able to affect normal ontogenic development and lead to a congenital anomaly
Define mutagene
It is an agent that is able to affect the genetic information on the level of DNA or on the level of chromosomes
Difference between mutagene and teratogen
All mutagenes are teratogens, but not all teratogenes are mutagenes
Chromosomal aberration ?
Numerical or structural abnormality of the karyotype
What are the types of anomaly ?
1) malformation
2) disruption
3) deformation
4) dysplasia
5) isolated anomaly
6) sequence
7) association
8) syndrome
What is a genetic disorder ?
A condition caused by the mutation of genes
Explain malformation
It is caused by an abnormal development of the organ or tissue. The organ/ tissue is abnormal from the beginning
Disruption ?
It is caused by a destructive process that affects an organ or tissue that was developing normally
Deformation
It is caused by an abnormal physical force that damages a healthy organ or tissue
Dysplasia
It is caused by an abnormal organisation of the cells in the organ / tissue
Isolated anomaly
An anomaly that is not associated with any other conditions
Sequence
Multiple anomalies that result from the pathological cascade caused by a primary insult
Association
Selected congenital anomalies that develop together
