Congenital Anomalies Flashcards Preview

Week 40: Chromosomal Abnormalities > Congenital Anomalies > Flashcards

Flashcards in Congenital Anomalies Deck (8)
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1

Major anomaly definition

Structural abnormality of medical, surgical or cosmetic significance
Ex: CHD, Hirschsprung disease, cleft lip and/or palate

2

Minor anomaly definition

A structural anomaly, not of medical significance but which may give a clue about the underlying condition
Ex: single palmar crease, epicanthic folds, fifth finger clinodactyly

3

Malformation vs deformation

Malformation: morphological defect of an organ/region of the body due to an intrinsically abnormal developmental process
Deformation: alteration in shape and/or structure from aberrant mechanical forces that distort otherwise normal structures

4

Dysplasia

Abnormality in the organization or differentiation of cells within a specific tissue type, resulting in clinically apparent structural changes

5

Disruption

A structural defect resulting from destruction of a previously normally formed part

6

Sequence

A single defect that leads to a number of secondary structural defects

7

Syndrome

A recognizable pattern of anomalies considered to have a single or specific cause

8

Hard handle definition

A clinical sign that does not overlap with common variation or multiple syndromes