The Gale Encyclopedia of Genetic Disorders

691 Pages·2002·6.82 MB·English

by  Stacey Blachford

GALE
The
ENCYCLOPEDIA of
Genetic
Disorders
GALE
The
ENCYCLOPEDIA of
Genetic
Disorders
VOLUME
1
A-L
STACEY L. BLACHFORD, EDITOR
The GALE
ENCYCLOPEDIA
of GENETIC DISORDERS
STAFF Since this page cannot legibly accommodate all copyright notices,the
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Stacey L. Blachford,Associate Editor
While every effort has been made to ensure the reliability of the infor-
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Indexing provided by:Synapse.
Illustrations created by: Library of Congress Cataloging-in-Publication Data
Argosy,West Newton,Massachusetts The Gale encyclopedia of genetic disorders / Stacey L. Blachford,
associate editor.
Electronic Illustrators Group,Morgan Hill,California
p. cm.
Includes bibliographical references and index.
Summary:Presents nearly four hundred articles describing
genetic disorders,conditions,tests,and treatments,including
high-profile diseases such as Alzheimer’s,breast cancer,and
heart disease.
ISBN 0-7876-5612-7 (set :hardcover :alk.paper
1. Genetic disorders—Encyclopedias,Juvenile. [1. Genetic
disorders—Encyclopedias. 2. Diseases—Encyclopedias.]
I. Blachford,Stacey.
RB155.5 .G35 2001
616’.042’03—dc21
2001040100
CONTENTS
Introduction vii
. . . . . . . . . . . . . . . . . . . . . . . . .
Advisory Board xi
. . . . . . . . . . . . . . . . . . . . . .
Contributors xiii
. . . . . . . . . . . . . . . . . . . . . . . .
Entries
Volume 1:A-L . . . . . . . . . . . . . . . . . . . . . .1
Volume 2:M-Z . . . . . . . . . . . . . . . . . . . .691
Appendix
Symbol Guide for Pedigree Charts . . . . . .1231
Chromosome Map . . . . . . . . . . . . . . . . .1233
Organizations List . . . . . . . . . . . . . . . . .1241
Glossary 1259
. . . . . . . . . . . . . . . . . . . . . . . . . .
General Index 1311
. . . . . . . . . . . . . . . . . . . . .
GALE ENCYCLOPEDIA OF GENETIC DISORDERS v
PLEASE READ—IMPORTANT INFORMATION
The Gale Encyclopedia of Genetic Disorders is a any kind,including without limitation,warranties of mer-
medical reference product designed to inform and educate chantability or fitness for a particular purpose,nor does it
readers about a wide variety of disorders, conditions, guarantee the accuracy,comprehensiveness,or timeliness
treatments, and diagnostic tests. Gale Group believes the of the information contained in this product. Readers
product to be comprehensive, but not necessarily defini- should be aware that the universe of medical knowledge is
tive. It is intended to supplement,not replace,consultation constantly growing and changing,and that differences of
with a physician or other health care practitioner. While medical opinion exist among authorities. They are also
Gale Group has made substantial efforts to provide infor- advised to seek professional diagnosis and treatment for
mation that is accurate, comprehensive, and up-to-date, any medical condition, and to discuss information
the Gale Group makes no representations or warranties of obtained from this book with their health care provider.
GALE ENCYCLOPEDIA OF GENETIC DISORDERS vii
INTRODUCTION
The Gale Encyclopedia of Genetic Disorders is a made up of seven medical and genetic experts,evaluated
unique and invaluable source for information regarding the topics and made suggestions for inclusion. Final
diseases and conditions of a genetic origin. This collec- selection of topics to include was made by the advisory
tion of nearly 400 entries provides in-depth coverage of board in conjunction with Gale Group editors.
disorders ranging from exceedingly rare to very well-
known. In addition, several non-disorder entries have
ABOUT THE CONTRIBUTORS
been included to facilitate understanding of common
genetic concepts and practices such as Chromosomes, The essays were compiled by experienced medical
Genetic counseling,and Genetic testing. writers, primarily genetic counselors, physicians, and
other health care professionals. The advisors reviewed
This encyclopedia avoids medical jargon and uses
the completed essays to insure they are appropriate, up-
language that laypersons can understand,while still pro-
to-date,and medically accurate.
viding thorough coverage of each disorder medical pro-
fessionals will find beneficial as well. The Gale
Encyclopedia of Genetic Disorders fills a gap between HOW TO USE THIS BOOK
basic consumer health resources, such as single-volume
The Gale Encyclopedia of Genetic Disorders has
family medical guides,and highly technical professional
been designed with ready reference in mind.
materials.
(cid:127) Straight alphabetical arrangement of topics allows
Each entry discussing a particular disorder follows a
users to locate information quickly.
standardized format that provides information at a
glance. The rubric used was: (cid:127) Bold-faced termsdirect the reader to related articles.
(cid:127) Definition (cid:127) Cross-referencesplaced throughout the encyclopedia
point readers to where information on subjects with-
(cid:127) Description
out entries may be found.
(cid:127) Genetic profile
(cid:127) A list of key termsare provided where appropriate to
(cid:127) Demographics define unfamiliar terms or concepts. Additional terms
may be found in the glossaryat the back of volume 2.
(cid:127) Signs and symptoms
(cid:127) The Resources section directs readers to additional
(cid:127) Diagnosis
sources of medical information on a topic.
(cid:127) Treatment and management
(cid:127) Valuable contact information for organizations and
(cid:127) Prognosis
support groups is included with each entry. The
(cid:127) Resources appendix contains an extensive list of organizations
arranged in alphabetical order.
(cid:127) Key terms
(cid:127) A comprehensive general indexguides readers to all
topics and persons mentioned in the text.
INCLUSION CRITERIA
A preliminary list of diseases and disorders was
GRAPHICS
compiled from a wide variety of sources, including pro-
fessional medical guides and textbooks, as well as con- The Gale Encyclopedia of Genetic Disorders con-
sumer guides and encyclopedias. The advisory board, tains over 200 full color illustrations, including photos
GALE ENCYCLOPEDIA OF GENETIC DISORDERS ix
n and pedigree charts. A complete symbol guide for the duced by permission. Congenital heart defects©Simon
o
ti pedigree charts can be found in the appendix. Fraser/Science Photo Library/Photo Researchers, Inc.
c
u Reproduced by permission. Conjoined twins©Siebert/
d
o Custom Medical Stock Photo. Reproduced by permis-
r
nt ACKNOWLEDGEMENTS sion. Corneal dystrophy © Gilman/Custom Medical
I
The editor would like to thank the following individ- Stock Photo. Reproduced by permission. Cystic fibrosis
uals for their assistance with the Gale Encyclopedia of © 1992 Michael English, M. D. Custom Medical Stock
Genetic Disorders:Deepti Babu,MS CGC,Dawn Jacob, Photo. Reproduced by permission. Depression © NIH/
MS, and Jennifer Neil, MS CGC, for the creation of the Science Source, National Audubon Society Collection/
pedigree charts found in entries throughout the main Photo Researchers, Inc. Reproduced with permission.
body; K. Lee and Brenda Lerner for their assistance in Diabetes mellitus © 1992 Science Photo Library/
compiling and reviewing most of the non-disorder entries Custom Medical Stock Photo. Reproduced by permis-
in this encyclopedia; and to Connie Clyde, Kyung sion. Down syndrome ©A. Sieveing. A. Sieveing/Petit
Kalasky, Beth Kapes, Monique Laberge, PhD, and Lisa Format/Photo Researchers, Inc. Reproduced by permis-
Nielsen for their extensive assistance with the final phase sion. Dysplasia © Biophoto/Photo Researchers, Inc.
of manuscript preparation. Reproduced by permission. Ehler-Danlos syndrome
© NMSB/Custom Medical Stock Photo. Reproduced by
permission. Encephalocele © Siebert/Custom Medical
PHOTO ACKNOWLEDGEMENTS
Stock Photo. Reproduced by permission. Epidermolysis
All photographs and illustrations throughout the bullosa © M. English/Custom Medical Stock Photo.
Gale Encyclopedia of Genetic Disorders have been Reproduced by permission. Fragile X syndrome
reproduced by permission from the source noted in each © Siebert/Custom Medical Stock Photo. Reproduced by
caption. Special acknowledgement is given to the pho- permission. Gene mapping©Sinclair Stammers. Photo
tographers of photographs found in the following entries: Researchers, Inc. Reproduced by permission. Gene
Achondroplasia © David Frazier/Photo Researchers, mutation © Joseph R. Siebert. Custom Medical Stock
Inc. Reproduced by permission. Acromegaly©NMSB/ Photo. Reproduced by permission. Gene pool © Gerald
Custom Medical Stock Photo. Reproduced by permis- Davis/Phototake NYC. Reproduced with permission.
sion. Albinism © Norman Lightfoot. National Audubon Gene therapy © 1995, photograph by James King.
Society Collection/Photo Researchers, Inc. Reproduced /SPL/Custom Medical Stock Photo. Reproduced by per-
by permission. Alzheimer disease © Alfred Pasieka. mission. Gene therapy © Philippe Plailly. National
SPL/Photo Researchers,Inc. Reproduced by permission. Audubon Society Collection/Photo Researchers, Inc.
Amniocentesis © Will and Demi McIntyre. National Reproduced by permission. Genetic disorders©NMSB/
Audubon Society Collection/Photo Researchers, Inc. Custom Medical Stock Photo. Reproduced by permis-
Reproduced by permission. Ankylosing spondylitis sion. Genetic testing © Phillippe Plailly. Science Photo
© P. Marazzi. SPL/Photo Researchers, Inc. Reproduced Library, National Audubon Society Collection/Photo
by permission. Apert syndrome©Ansary/Custom Med- Researchers,Inc. Reproduced by permission. Glaucoma
ical Stock Photo. Reproduced by permission. Asthma © 1995 Science Photo Library, Western Ophthalmic
©1993 B.S.I.P./ Custom Medical Stock Photo. Repro- Hospital/Science Photo Library. Custom Medical Stock
duced by permission. Attention deficit hyperactivity Photo. Reproduced by permission. Goltz syndrome
disorder©Robert J. Huffman. Field Mark Publications. ©L I,Inc./Custom Medical Stock Photo. Reproduced by
Reproduced by permission. Bicuspid aortic valve permission. Hair loss syndrome © NMSB/Custom
© Roseman/Custom Medical Stock Photo. Reproduced Medical Stock Photo. Reproduced by permission. Hemo-
by permission. Cancer©Nina Lampen. Science Source/ philia © Bates/Custom Medical Stock Photo. Repro-
Photo Researchers, Inc. Reproduced by permission. duced by permission. Hydrocephalus © Lester V.
Cerebral palsy © Will McIntyre. W. McIntyre/Photo Bergman/Corbis. Reproduced by permission. Ichthyosis
Researchers, Inc. Reproduced by permission. Chromo- © NMSB/Custom Medical Stock Photo. Reproduced by
somes©CNRI/Science Photo Library. Photo Researchers, permission. Inheritance © Biophoto Associates/Photo
Inc. Reproduced by permission. Cleft lip and palate Researchers, Inc. Reproduced by permission. Joubert
© NMSB/Custom Medical Stock Photo. Reproduced by syndrome © Gary Parker. SPL/Photo Researchers, Inc.
permission. Clubfoot © Science Source, National Reproduced by permission. Karyotype©Science Photo
Audubon Society Collection/Photo Researchers, Inc. Library/Custom Medical Stock Photo. Reproduced by
Reproduced with permission. Coloboma © P. Marazzi. permission. Liver cancer © CNRI/Photo Researchers,
SPL/Photo Researchers,Inc. Reproduced by permission. Inc. Reproduced by permission. McKusick-Kaufman
Color blindness © Lester V. Bergman/Corbis. Repro- syndrome © Thomas B. Hollyman, Science Source/
x GALE ENCYCLOPEDIA OF GENETIC DISORDERS
Photo Researchers. Reproduced by permission. Meckel Murti. National Audubon Society Collection/Photo I
n
diverticulum © 1991, photograph. NMSB/Custom Researchers,Inc. Reproduced by permission. Sickle cell tr
o
Medical Stock Photo. Reproduced by permission. Nar- anemia©1995 Science Photo Library. Custom Medical du
colepsy©Bannor/Custom Medical Stock Photo. Repro- Stock Photo. Reproduced by permission. Spina bifida ct
io
duced by permission. Olser-Rendu-Weber syndrome © Biophoto Associates, National Audubon Society n
© P. Marazzi. SPL/Photo Researchers, Inc. Reproduced Collection/Photo Researchers, Inc. Reproduced by per-
by permission. Oral-facial-digital syndrome©Photog- mission. Stein-Leventhal syndrome©P. Marazzi. SPL/
raphy by Keith. Custom Medical Stock Photo. Repro- Photo Researchers, Inc. Reproduced by permission.
duced by permission. Osteogenesis imperfecta Stomach cancer © Science Photo Library/Custom
Medical Stock Photo. Reproduced by permission.
© Joseph Siebert, Ph. D. Custom Medical Stock Photo.
Sturge-Weber syndrome © Mehau Kulyk. SPL/Photo
Reproduced by permission. Osteoperosis©1993 Patrick
Researchers, Inc. Reproduced by permission. Suther-
McDonnel. Custom Medical Stock Photo. Reproduced
land-Haan syndrome © Biophoto Associates/Photo
by permission. Otopalatodigital syndrome©Biophoto
Researchers,Inc. Reproduced by permission. Tay-Sachs
Associates/Science Source/Photo Researchers, Inc.
disease © 1992 IMS Creative/Graph/Photo. Custom
Reproduced by permission. Pancreatic cancer © John
Medical Stock Photo. Reproduced by permission.
Bavosi/Science Photo Library. Custom Medical Stock
Thalassemia © John Bavosi. SPL/Photo Researchers,
Photo. Reproduced by permission. Polycystic kidney
Inc. Reproduced by permission. Triose phosphate iso-
disease © A. Glauberman. Photo Researchers, Inc.
merase © photograph. NMSB/Custom Medical Stock
Reproduced by permission. Porphyrias © Ansary/
Photo. Reproduced by permission. Trisomy 13 © 1992
Custom Medical Stock Photo. Reproduced by permis-
Ralph C. Eagle, M.D./Photo Researchers, Inc. Repro-
sion. Potter syndrome©Siebert/Custom Medical Stock
duced by permission. Trisomy 18©Department of Clin-
Photo. Reproduced by permission. Progeria © NMSB/
ical Cytogenetics,Addenbrookes Hospital/Science Photo
Custom Medical Stock Photo. Reproduced by permis-
Library/Photo Researchers, Inc. Reproduced by permis-
sion. Prostate cancer © Dr. P. Marazzi. Photo
sion. Tuberous sclerosis © LI Inc./Custom Medical
Researchers, Inc. Reproduced by permission. Prune
Stock Photo. Reproduced by permission. Turner syn-
belly syndrome©Ansary/Custom Medical Stock Photo.
drome © NMSB/Custom Medical Stock Photo. Repro-
Reproduced by permission. Raynaud disease © 1997, duced by permission. Usher syndrome©L. Steinmark.
photograph. P. Stocklein/Custom Medical Stock Photo. Custom Medical Stock Photo. Reproduced by permis-
Reproduced by permission. Retinitis pigmentosa©Sci- sion. Werner syndrome © NMSB/Custom Medical
ence Photo Library/Custom Medical Stock Photo. Repro- Stock Photo. Reproduced by permission. Wilson disease
duced by permission. Scleroderma © Dr. P. Marazzi. ©Science Photo Library/Photo Researchers,Inc. Repro-
Photo Researchers, Inc. Reproduced by permission. duced by permission. Zygote © Dr. Yorgos Nikas/
Scoliosis©NMSB/Custom Medical Stock Photo. Repro- Science Photo Library/Photo Researchers, Inc. Repro-
duced by permission. Sickle cell anemia © Dr. Gopal duced by permission.
GALE ENCYCLOPEDIA OF GENETIC DISORDERS xi
ADVISORY BOARD
An advisory board comprised of genetic specialists from a variety of backgrounds provided invaluable assistance in the for-
mulation of this encyclopedia. This advisory board performed a myriad of duties, from defining the scope of coverage to
reviewing individual entries for accuracy and accessibility. We would therefore like to express our sincere thanks and appre-
ciation for all of their contributions.
Stephen Braddock,MD Consultant Psychotherapist in Private Practice
Assistant Professor Lathrup Village,Michigan
Director,Missouri Teratogen Information Service
Katherine Hunt,MS
(MOTIS)
Senior Genetic Counselor/Lecturer
Division of Medical Genetics
School of Medicine
University of Missouri-Columbia School of
University of New Mexico
Medicine
Albuquerqe,New Mexico
Columbia,Missouri
Richard McCartney,MD
Cynthia R. Dolan,MS CGC
Diplomat,American Board of Surgery
Clinical Director/Genetic Counselor
Fellow,American College of Surgeons
Inland Northwest Genetic Clinic
Richland,Washington
Spokane,Washington
Associate Editor
William K. Scott,PhD
GeneClinics:Clinical Genetics Information
Assistant Research Professor
Resource
Center for Human Genetics
University of Washington School of Medicine
Duke University Medical Center
Seattle,Washington
Durham,North Carolina
Laith Farid Gulli,MD
Roger E. Stevenson,MD
MSc,MSc(MedSci),MSA,MscPsych,MRSNZ
Director
FRSH,FRIPHH,FAIC,FZS
Greenwood Genetic Center
DAPA,DABFC,DABCI
Greenwood,South Carolina
GALE ENCYCLOPEDIA OF GENETIC DISORDERS xiii