Dysmorphology and Teratogenesis Introduction Quiz

Dysmorphology

• Refers to the study of birth defects or congenital anomalies
• Focuses on the diagnosis and classification of these conditions
• Involves understanding the causes and mechanisms of developmental abnormalities

Atrial Septal Defect (ASD)

• A congenital heart defect where there is an abnormal opening between the right and left atria of the heart
• This opening allows blood to flow from the left atrium to the right atrium, bypassing the lungs
• Can lead to a variety of symptoms depending on the severity of the defect

Synpolydactyly (SPD)

• A rare limb deformity marked by the presence of both syndactyly and polydactyly
• Syndactyly refers to the fusion of toes or fingers
• Polydactyly refers to the presence of extra fingers or toes

Teratogenesis

• The process by which malformations are produced in a fetus
• Can be caused by various factors such as genetic mutations, exposure to teratogens (e.g., drugs, alcohol, viruses), or environmental factors
• Teratogens can disrupt normal embryonic development and lead to structural abnormalities

Malformation Sequence

• A series of anatomical abnormalities that are linked together by a single initiating event
• The initial defect triggers a cascade of secondary developmental disturbances
• Example: A malformation sequence involving a cleft lip can lead to abnormalities in the palate, teeth, and even facial bones

Individuals with Dysmorphic Features

• Individuals whose facial features or physical characteristics are not typically found in others of the same age or ethnicity
• May be a sign of an underlying genetic or developmental condition
• It's important to note that dysmorphic features can be present in a wide range of conditions, some with more significant implications than others

Dysmorphic Features

• The occurrence of unusual facial features or physical characteristics
• Can involve the head, face, limbs, or other body parts
• They may be subtle or quite pronounced

Malformation Sequence

• An anatomical sequence of abnormalities that are linked by a single initiating event
• The initial defect triggers a chain of subsequent developmental issues
• Example: A malformation sequence involving a cleft lip might also include abnormalities in the palate, teeth, and facial structure

Teratogenesis

• The process by which malformations are produced in fetuses
• Causes disruptions during the embryonic development, resulting in birth defects
• Often caused by environmental factors, genetic mutations, or exposure to substances with adverse effects on fetal growth

Test your knowledge on dysmorphology and teratogenesis with this quiz. Learn about atrial septal defect dysmorphology and synpolydactyly congenital malformations.