title: Signs and Symptoms of Genetic Conditions: A Handbook
author: Louanne Hudgins
description: <br><strong>Louanne Hudgins, MD,</strong> is Chief of the Division of Medical Genetics and Professor of Pediatrics at Stanford University and Lucille Packard Children's Hospital. <br><br><strong>Helga V. Toriello, PhD,</strong> is Professor of Pediatrics and Human Development at Michigan State University and Director of Clinical Genetics at Spectrum Health.<br><br><strong>Gregory M. Enns, MD, </strong>is Associate Professor of Pediatrics in the Division of Medical Genetics at Stanford University and Lucille Packard Children's Hospital.<br><br><strong>H. Eugene Hoyme, MD, </strong>is Professor of Pediatrics at the Sanford School of Medicine of the University of South Dakota and Chief Academic Officer and President of Research at Sanford Health.<br>
zlib_text: Autosomal recessive diseases 
  (11)
  1. CF 2. albinism 3. alpha 1 
  antitrypsin deﬁciency 4. 
  phenylketonuria 5. thalassemias 6. 
  sicke cell anemia 7. glycogen 
  storage diseases 8. 
  mucopolysaccharidoses (except 
  Hunter's) 9. sphingolipidoses (except 
  Fabry's) 10.infant polycystic kidney 
  disease 11. hemochromatosis
  _____are associated with low 
  golic acid intake during 
  pregnancy.
  Neural tube defects
  90% of adult polycystic kidney 
  disease cases are due to 
  mutation in _____.
  APKD1 (on chromosome 16)
  95% of Down's syndrome 
  cases are due to what?
  meiotic nondisjunction of 
  homologous chromosomes 
  (4% due to Robertsonian 
  translocation and 1% due to 
  Down mosaicism)
  
  A patent ductus arteriosus is 
  maintained by what 2 things?
  PGE synthesis and low oxygen 
  tension
  Abnormalities associated with 
  Marfan's syndrome:
  1. Skeletal: tall with long 
  extremities, hyperextensive 
  joints, long tapering ﬁngers and 
  toes 2. Cardiovascular: cystic 
  medial necrosis of the aorta, 
  aortic incompetence, aor