This document provides an overview of congenital diseases and disorders in 3 sections: 1. It defines congenital abnormalities as birth defects that can be caused by genetics or teratogens, which are substances that cause malformations during pregnancy. 2. It describes some examples of congenital heart defects, nervous system diseases, digestive system disorders, genitourinary abnormalities, and musculoskeletal conditions. 3. It briefly discusses some metabolic disorders and genetic syndromes, including Down syndrome and fetal alcohol syndrome.

1. Lecture Notes 6
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
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4. Congenital Diseases and
Disorders
• Congenital abnormalities—also called
birth defects
• Genetics as cause
• Teratogen: substance that causes
malformation during pregnancy
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5. Congenital Diseases and
Disorders
• Which term refers to a substance that
causes birth defects?
1. Mutagen
2. Carcinogen
3. Oncogenic
4. Teratogen
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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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16. Credits
Publisher: Margaret Biblis
Acquisitions Editor: Andy McPhee
Developmental Editors: Yvonne Gillam, Julie Munden
Backgrounds: Joseph John Clark, Jr.
Production Manager: Sam Rondinelli
Manager of Electronic Product Development: Kirk Pedrick
Electronic Publishing: Frank Musick
The publisher is not responsible for errors of omission or for consequences from application of information in this presentation,
and makes no warranty, expressed or implied, in regard to its content. Any practice described in this presentation should be
applied by the reader in accordance with professional standards of care used with regard to the unique circumstances that may
apply in each situation.
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