Congenital Anomalies Flashcards
Define major anomaly
a structural abnormality of medical, surgical, or cosmetic significance
Define minor anomaly
a structural anomaly, not of medical significance but which may give a clue about the underlying condition
- eg. epicanthic folds, single palmar crease, 5th finger clinodactyly
What % of spontaneous miscarriages are due to major anomalies?
80-85% in the first trimester, 25% in the second trimester
What is the incidence of major anomalies at birth, 2 years, and 5 years?
birth = 2-3%
2 years = 5-7%
5 years = 7-10%
What is the incidence of minor anomalies?
14% of people have at least 1 anomaly
about 1% of people have 2+ anomalies
*if you have 3 or more anomalies, there is a <20% chance of a major structural anomaly
define malformation
morphological defect of an organ, or larger region of the body, resulting from an intrinsically abnormal developmental process
define deformation
an alteration in shape and/or structure, due to aberrant mechanical forces that distort otherwise normal structures
eg: plagiocephaly (odd shaped head due to bicornate uterus or mechanical forces after birth)
define dysplasia
an abnormality in the organization or differentiation of cells within a specific tissue type resulting in clinically apparent structural changes
define disruption
structural defect resulting from destruction of a previously normally formed part
define sequence
a single defect that leads to a number of secondary structural defects
define syndrome
a recognizable pattern of anomalies considered to have a single or specific cause
what are 4 features of FAS?
- thin upper lip
- smooth philtrum
- low nasal bridge
- small head
how many genetic loci are there associated with height?
at least 1000
