Dysmorphology

Question 1

Syndrome

Answer 1

A constellation of findings repeatedly observed in unrelated individuals with a similar/the same underlying cause

Question 2

Association

Answer 2

The nonrandom occurrence of a pattern of multiple anomalies in two or more individuals

Ex. VACTERL

Question 3

VACTERL

Answer 3

• Vertebral anomalies
• Anal atresia
• Cardiac defects
• Tracheoesophageal fistula
• Esophageal atresia
• Renal and radial anomalies
• Limb defects

Question 4

Malformation

Answer 4

Structural difference arising from a primary localized error in morphogenesis. Due to inherent abnormal development

Examples:

• Congenital heart defect
• Polydactyly
• Cleft palate in Van der Woude syndrome/as a result of a genetic mutation

Question 5

Deformation

Answer 5

An alteration in the shape or structure of a body part, that is otherwise differentiating normally, as the result of non-disruptive mechanical forces

Examples:

• Potter sequence (oligohydramnios)
• Pierre-Robin sequence (cleft-lip and palate due to micrognathia)

Question 6

Disruption

Answer 6

Structural defect resulting from destruction of a body part that has already differentiated normally

Example:
-Amniotic bands

Question 7

Dysplasia

Answer 7

An abnormal organization of cells into tissue as a result of a generalized defect in differentiation or growth

Examples:
-Skeletal dysplasia (Achondroplasia, hypochondroplasia…)

Question 8

Minor malformation

Answer 8

• Do not cause functional or medical problems

- Differences observed in the general population