Congenital Anomalies

Overview

• Congenital anomalies are abnormalities affecting structure and/or function of organs.
• Causes:
  • Genetic changes
  • Environmental factors
  • Teratogenic exposures

Classification of Anomalies

1. Malformations
   • Abnormal or incomplete formation of structures.
   • Types:
     • Major Malformations:
       • Have medical consequences.
       • Often require surgical repair.
     • Minor Malformations:
       • Mostly cosmetic consequences.
2. Deformations
   • Abnormal modification of normally forming structure.
   • Often due to intrauterine factors (e.g., decreased amniotic fluid).
3. Disruptions
   • Defects from vascular or mechanical causes.
   • Affect tissue and normally developing structures.
4. Dysplasias
   • Tissue malformations from intrinsic cellular organization issues.

Patterns of Anomalies

• Syndromes:
  • Recognizable phenotypes from a single causative event (e.g., chromosome abnormality).
• Sequences:
  • A single major anomaly alters the development of other structures.
• Associations:
  • Anomalies occurring together more frequently than by chance, often without a unifying etiology.

Diagnosis and Management

• Review of medical and family history is crucial.
• Detailed physical exam can suggest an underlying cause.
• If genetic causes are suspected:
  • Consider cytogenetic, biochemical, and/or molecular studies.
• Management is specific to diagnosis.
• Parental counseling and support is essential.