Congenital Anomalies

Question 1

Major anomaly definition

Answer 1

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

Question 2

Minor anomaly definition

Answer 2

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

Question 3

Malformation vs deformation

Answer 3

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

Question 4

Dysplasia

Answer 4

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

Question 5

Disruption

Answer 5

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

Question 6

Sequence

Answer 6

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

Question 7

Syndrome

Answer 7

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

Question 8

Hard handle definition

Answer 8

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