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

Copyright © 2011 by F. A. Davis Company. All rights reserved Copyright © 2011 by F.A. Davis Company. All rights reserved. This product is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means—electronic, mechanical, photocopying, recording, or otherwise—without written permission from the publisher.

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

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

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

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

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

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

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

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

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

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

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

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

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

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.