1. 6 Lecture Notes Congenital Diseases and Disorders
Classroom Activity to Accompany Diseases of the Human Body Fifth Edition
Carol D. Tamparo Marcia A. Lewis

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3. The last of the human freedoms is to choose one’s attitudes.
—Victor Frankl

4. Congenital Diseases and Disorders
Congenital abnormalities—also called birth defects
Genetics as cause
Teratogen: substance that causes malformation during pregnancy

5. Congenital Diseases and Disorders
Which term refers to a substance that causes birth defects?
Mutagen
Carcinogen
Oncogenic
Teratogen

6. Congenital Diseases and Disorders
Congenital heart defects
Acyanotic defects: no mixing of poorly oxygenated blood with blood reentering systemic circulation
Ventricular septal defect (VSD)
Atrial septal defect (ASD)
Coarctation of the aorta
Patent ductus arteriosus

7. Congenital Diseases and Disorders
Congenital heart defects (cont.)
Cyanotic defects: poorly oxygenated blood mixes with blood reentering systemic circulation
Tetralogy of Fallot
Transposition of the great arteries
Tricuspid atresia

8. Congenital Diseases and Disorders
Nervous system diseases and disorders
Neural tube defects occur in first month of pregnancy due to failure of neural tube to close
Spina bifida, meningocele, myelomeningocele
Hydrocephalus: too much cerebrospinal fluid (CSF) in brain ventricles
Congenital, acquired, communicating

9. Congenital Diseases and Disorders
Nervous system diseases and disorders (cont.)
Cerebral palsy: permanent, bilateral, nonprogressive paralysis
Result of developmental defects of the brain
Trauma during or after the birth process
Spastic or athetoid forms

10. Congenital Diseases and Disorders
Digestive system diseases and disorders
Cleft lip and palate: defective closure of the soft or hard palates
Tracheoesophageal fistula: abnormal connection between the esophagus and trachea
Esophageal atresia: esophagus not completely formed
Pyloric stenosis: narrowing of the pylorus

11. Congenital Diseases and Disorders
Digestive system diseases and disorders (cont.)
Malrotation with volvulus: malformation of intestines during 10th week of pregnancy
Hirschsprung disease: obstruction and dilation of the colon with feces
Omphalocele: intestines or other organs poke through the navel when abdominal wall fails to close

12. Congenital Diseases and Disorders
Genitourinary system diseases and disorders
Cryptorchidism: testes do not descend into the scrotum from the abdominopelvic cavity
Defects of the ureter, bladder, and urethra: duplicated, retrocaval, or ectopic orifice of ureter, ureterocele, exstrophy of bladder, congenital bladder diverticulum, hypospadias, epispadias

13. Congenital Diseases and Disorders
Musculoskeletal system diseases and disorders
Talipes varus, valgus, equinus, or calcaneus (clubfoot): congenital deformity in which the foot is bent
Hip dysplasia: abnormality of the hip joint
Duchenne muscular dystrophy: progressive bilateral wasting of the skeletal muscles

14. Congenital Diseases and Disorders
Metabolic disorders
Cystic fibrosis: exocrine gland disorder; copious amounts of mucus clog bronchi, lungs, pancreas
Phenylketonuria: error in phenylalanine metabolism

15. Congenital Diseases and Disorders
Syndromes
Down: trisomy 21; extra chromosome 21
Fetal alcohol: physical, mental, behavioral problems caused by consumption of alcohol by the mother during pregnancy
Tourette: nervous system disorder; individual makes involuntary repeated tics and sounds or movements

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