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The GALE

ENCYCLOPEDIA of

Genetic

Disorders

The GALE

ENCYCLOPEDIA of

Genetic

Disorders

V O L U M E

1

A-L

S T A C E Y L . B L A C H F O R D , E D I T O R

The GALE

ENCYCLOPEDIA

of GENETIC DISORDERS

STAFF

Stacey L. Blachford, Associate Editor

Christine B. Jeryan, Managing Editor

Melissa C. McDade, Associate Editor

Ellen Thackery, Associate Editor

Mark Springer, Technical Training Specialist

Andrea Lopeman, Programmer/Analyst

Barbara Yarrow, Manager, Imaging and Multimedia

Content

Robyn Young, Project Manager, Imaging and

Multimedia Content

Randy Bassett, Imaging Supervisor

Robert Duncan, Senior Imaging Specialist

Pamela A. Reed, Coordinator, Imaging and Multimedia

Content

Maria Franklin, Permissions Manager

Ryan Thomason, Permissions Associate

Lori Hines, Permissions Assistant

Kenn Zorn, Product Manager

Michelle DiMercurio, Senior Art Director

Mary Beth Trimper, Manager, Composition and

Electronic Prepress

Evi Seoud, Assistant Manager, Composition Purchasing

and Electronic Prepress

Dorothy Maki, Manufacturing Manager

Ronald D. Montgomery, Manager, Data Capture

Gwendolyn S. Tucker, Project Administrator Beverly Jendrowski, Data Capture Specialist

Indexing provided by: Synapse. Illustrations created by:

Argosy, West Newton, Massachusetts

Electronic Illustrators Group, Morgan Hill, California

Since this page cannot legibly accommodate all copyright notices, the acknowledgments constitute an extension of the copyright notice.

While every effort has been made to ensure the reliability of the information presented in this publication, the Gale Group neither guarantees the accuracy of the data contained herein nor assumes any responsibility for errors, omissions or discrepancies. The Gale Group accepts no payment for listing, and inclusion in the publication of any organization, agency, institution, publication, service, or individual does not imply endorsement of the editors or publisher. Errors brought to the attention of the publisher and verified to the satisfaction of the publisher will be corrected in future editions.

This book is printed on recycled paper that meets Environmental Protection Agency standards.

The paper used in this publication meets the minimum requirements of American National Standard for Information Sciences-Permanence Paper for Printed Library Materials, ANSI Z39.48-1984.

This publication is a creative work fully protected by all applicable copyright laws, as well as by misappropriation, trade secret, unfair competition, and other applicable laws. The authors and editors of this work have added value to the underlying factual material herein through one or more of the following: unique and original selection, coordination, expression, arrangement, and classification of the information.

Gale Group and design is a trademark used herein under license.

All rights to this publication will be vigorously defended.

Copyright © 2002

Gale Group

27500 Drake Road

Farmington Hills, MI 48331-3535

All rights reserved including the right of reproduction in whole or in part in any form.

ISBN 0-7876-5612-7 (set) 0-7876-5613-5 (Vol. 1) 0-7876-5614-3 (Vol. 2)

Printed in the United States of America 10 9 8 7 6 5 4 3 2 1

Library of Congress Cataloging-in-Publication Data

The Gale encyclopedia of genetic disorders / Stacey L. Blachford, associate editor.

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 medical reference product designed to inform and educate readers about a wide variety of disorders, conditions, treatments, and diagnostic tests. Gale Group believes the product to be comprehensive, but not necessarily definitive. It is intended to supplement, not replace, consultation with a physician or other health care practitioner. While Gale Group has made substantial efforts to provide information that is accurate, comprehensive, and up-to-date, the Gale Group makes no representations or warranties of

any kind, including without limitation, warranties of merchantability or fitness for a particular purpose, nor does it guarantee the accuracy, comprehensiveness, or timeliness of the information contained in this product. Readers should be aware that the universe of medical knowledge is constantly growing and changing, and that differences of medical opinion exist among authorities. They are also advised to seek professional diagnosis and treatment for any medical condition, and to discuss information obtained from this book with their health care provider.

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

vii

INTRODUCTION

The Gale Encyclopedia of Genetic Disorders is a unique and invaluable source for information regarding diseases and conditions of a genetic origin. This collection of nearly 400 entries provides in-depth coverage of disorders ranging from exceedingly rare to very wellknown. In addition, several non-disorder entries have been included to facilitate understanding of common genetic concepts and practices such as Chromosomes, Genetic counseling, and Genetic testing.

This encyclopedia avoids medical jargon and uses language that laypersons can understand, while still providing thorough coverage of each disorder medical professionals will find beneficial as well. The Gale Encyclopedia of Genetic Disorders fills a gap between basic consumer health resources, such as single-volume family medical guides, and highly technical professional materials.

Each entry discussing a particular disorder follows a standardized format that provides information at a glance. The rubric used was:

Definition

Description

Genetic profile

Demographics

Signs and symptoms

Diagnosis

Treatment and management

Prognosis

Resources

Key terms

INCLUSION CRITERIA

A preliminary list of diseases and disorders was compiled from a wide variety of sources, including professional medical guides and textbooks, as well as consumer guides and encyclopedias. The advisory board,

made up of seven medical and genetic experts, evaluated the topics and made suggestions for inclusion. Final selection of topics to include was made by the advisory board in conjunction with Gale Group editors.

ABOUT THE CONTRIBUTORS

The essays were compiled by experienced medical writers, primarily genetic counselors, physicians, and other health care professionals. The advisors reviewed the completed essays to insure they are appropriate, up- to-date, and medically accurate.

HOW TO USE THIS BOOK

The Gale Encyclopedia of Genetic Disorders has been designed with ready reference in mind.

Straight alphabetical arrangement of topics allows users to locate information quickly.

Bold-faced terms direct the reader to related articles.

Cross-references placed throughout the encyclopedia point readers to where information on subjects without entries may be found.

A list of key terms are provided where appropriate to define unfamiliar terms or concepts. Additional terms may be found in the glossary at the back of volume 2.

The Resources section directs readers to additional sources of medical information on a topic.

Valuable contact information for organizations and support groups is included with each entry. The appendix contains an extensive list of organizations arranged in alphabetical order.

A comprehensive general index guides readers to all topics and persons mentioned in the text.

GRAPHICS

The Gale Encyclopedia of Genetic Disorders contains over 200 full color illustrations, including photos

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

ix

Introduction

and pedigree charts. A complete symbol guide for the pedigree charts can be found in the appendix.

ACKNOWLEDGEMENTS

The editor would like to thank the following individuals for their assistance with the Gale Encyclopedia of Genetic Disorders: Deepti Babu, MS CGC, Dawn Jacob, MS, and Jennifer Neil, MS CGC, for the creation of the pedigree charts found in entries throughout the main body; K. Lee and Brenda Lerner for their assistance in compiling and reviewing most of the non-disorder entries in this encyclopedia; and to Connie Clyde, Kyung Kalasky, Beth Kapes, Monique Laberge, PhD, and Lisa Nielsen for their extensive assistance with the final phase of manuscript preparation.

PHOTO ACKNOWLEDGEMENTS

All photographs and illustrations throughout the

Gale Encyclopedia of Genetic Disorders have been reproduced by permission from the source noted in each caption. Special acknowledgement is given to the photographers of photographs found in the following entries: Achondroplasia © David Frazier/Photo Researchers, Inc. Reproduced by permission. Acromegaly © NMSB/ Custom Medical Stock Photo. Reproduced by permission. Albinism © Norman Lightfoot. National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Alzheimer disease © Alfred Pasieka. SPL/Photo Researchers, Inc. Reproduced by permission. Amniocentesis © Will and Demi McIntyre. National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Ankylosing spondylitis

©P. Marazzi. SPL/Photo Researchers, Inc. Reproduced by permission. Apert syndrome © Ansary/Custom Medical Stock Photo. Reproduced by permission. Asthma

©1993 B. S. I. P. / Custom Medical Stock Photo. Reproduced by permission. Attention deficit hyperactivity disorder © Robert J. Huffman. Field Mark Publications. Reproduced by permission. Bicuspid aortic valve

©Roseman/Custom Medical Stock Photo. Reproduced by permission. Cancer © Nina Lampen. Science Source/ Photo Researchers, Inc. Reproduced by permission. Cerebral palsy © Will McIntyre. W. McIntyre/Photo Researchers, Inc. Reproduced by permission. Chromosomes © CNRI/Science Photo Library. Photo Researchers, Inc. Reproduced by permission. Cleft lip and palate

©NMSB/Custom Medical Stock Photo. Reproduced by permission. Clubfoot © Science Source, National Audubon Society Collection/Photo Researchers, Inc. Reproduced with permission. Coloboma © P. Marazzi. SPL/Photo Researchers, Inc. Reproduced by permission. Color blindness © Lester V. Bergman/Corbis. Repro-

duced by permission. Congenital heart defects © Simon Fraser/Science Photo Library/Photo Researchers, Inc. Reproduced by permission. Conjoined twins © Siebert/ Custom Medical Stock Photo. Reproduced by permission. Corneal dystrophy © Gilman/Custom Medical Stock Photo. Reproduced by permission. Cystic fibrosis

©1992 Michael English, M. D. Custom Medical Stock Photo. Reproduced by permission. Depression © NIH/ Science Source, National Audubon Society Collection/ Photo Researchers, Inc. Reproduced with permission. Diabetes mellitus © 1992 Science Photo Library/ Custom Medical Stock Photo. Reproduced by permission. Down syndrome © A. Sieveing. A. Sieveing/Petit Format/Photo Researchers, Inc. Reproduced by permission. Dysplasia © Biophoto/Photo Researchers, Inc. Reproduced by permission. Ehler-Danlos syndrome

©NMSB/Custom Medical Stock Photo. Reproduced by permission. Encephalocele © Siebert/Custom Medical Stock Photo. Reproduced by permission. Epidermolysis bullosa © M. English/Custom Medical Stock Photo.

Reproduced by permission. Fragile X syndrome

©Siebert/Custom Medical Stock Photo. Reproduced by permission. Gene mapping © Sinclair Stammers. Photo Researchers, Inc. Reproduced by permission. Gene mutation © Joseph R. Siebert. Custom Medical Stock Photo. Reproduced by permission. Gene pool © Gerald Davis/Phototake NYC. Reproduced with permission. Gene therapy © 1995, photograph by James King. /SPL/Custom Medical Stock Photo. Reproduced by permission. Gene therapy © Philippe Plailly. National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Genetic disorders © NMSB/ Custom Medical Stock Photo. Reproduced by permission. Genetic testing © Phillippe Plailly. Science Photo Library, National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Glaucoma

©1995 Science Photo Library, Western Ophthalmic Hospital/Science Photo Library. Custom Medical Stock Photo. Reproduced by permission. Goltz syndrome

©L I, Inc./Custom Medical Stock Photo. Reproduced by permission. Hair loss syndrome © NMSB/Custom Medical Stock Photo. Reproduced by permission. Hemophilia © Bates/Custom Medical Stock Photo. Reproduced by permission. Hydrocephalus © Lester V. Bergman/Corbis. Reproduced by permission. Ichthyosis

©NMSB/Custom Medical Stock Photo. Reproduced by permission. Inheritance © Biophoto Associates/Photo Researchers, Inc. Reproduced by permission. Joubert syndrome © Gary Parker. SPL/Photo Researchers, Inc. Reproduced by permission. Karyotype © Science Photo Library/Custom Medical Stock Photo. Reproduced by permission. Liver cancer © CNRI/Photo Researchers, Inc. Reproduced by permission. McKusick-Kaufman syndrome © Thomas B. Hollyman, Science Source/

x

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Photo Researchers. Reproduced by permission. Meckel diverticulum © 1991, photograph. NMSB/Custom Medical Stock Photo. Reproduced by permission. Narcolepsy © Bannor/Custom Medical Stock Photo. Reproduced by permission. Olser-Rendu-Weber syndrome

© P. Marazzi. SPL/Photo Researchers, Inc. Reproduced by permission. Oral-facial-digital syndrome © Photography by Keith. Custom Medical Stock Photo. Reproduced by permission. Osteogenesis imperfecta

© Joseph Siebert, Ph. D. Custom Medical Stock Photo. Reproduced by permission. Osteoperosis © 1993 Patrick McDonnel. Custom Medical Stock Photo. Reproduced by permission. Otopalatodigital syndrome © Biophoto Associates/Science Source/Photo Researchers, Inc. Reproduced by permission. Pancreatic cancer © John Bavosi/Science Photo Library. Custom Medical Stock Photo. Reproduced by permission. Polycystic kidney disease © A. Glauberman. Photo Researchers, Inc. Reproduced by permission. Porphyrias © Ansary/ Custom Medical Stock Photo. Reproduced by permission. Potter syndrome © Siebert/Custom Medical Stock Photo. Reproduced by permission. Progeria © NMSB/ Custom Medical Stock Photo. Reproduced by permission. Prostate cancer © Dr. P. Marazzi. Photo Researchers, Inc. Reproduced by permission. Prune belly syndrome © Ansary/Custom Medical Stock Photo. Reproduced by permission. Raynaud disease © 1997, photograph. P. Stocklein/Custom Medical Stock Photo. Reproduced by permission. Retinitis pigmentosa © Science Photo Library/Custom Medical Stock Photo. Reproduced by permission. Scleroderma © Dr. P. Marazzi. Photo Researchers, Inc. Reproduced by permission. Scoliosis © NMSB/Custom Medical Stock Photo. Reproduced by permission. Sickle cell anemia © Dr. Gopal

Murti. National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Sickle cell anemia © 1995 Science Photo Library. Custom Medical Stock Photo. Reproduced by permission. Spina bifida

©Biophoto Associates, National Audubon Society Collection/Photo Researchers, Inc. Reproduced by permission. Stein-Leventhal syndrome © P. Marazzi. SPL/ Photo Researchers, Inc. Reproduced by permission. Stomach cancer © Science Photo Library/Custom Medical Stock Photo. Reproduced by permission. Sturge-Weber syndrome © Mehau Kulyk. SPL/Photo Researchers, Inc. Reproduced by permission. Suther- land-Haan syndrome © Biophoto Associates/Photo Researchers, Inc. Reproduced by permission. Tay-Sachs disease © 1992 IMS Creative/Graph/Photo. Custom Medical Stock Photo. Reproduced by permission. Thalassemia © John Bavosi. SPL/Photo Researchers, Inc. Reproduced by permission. Triose phosphate isomerase © photograph. NMSB/Custom Medical Stock Photo. Reproduced by permission. Trisomy 13 © 1992 Ralph C. Eagle, M.D./Photo Researchers, Inc. Reproduced by permission. Trisomy 18 © Department of Clinical Cytogenetics, Addenbrookes Hospital/Science Photo Library/Photo Researchers, Inc. Reproduced by permission. Tuberous sclerosis © LI Inc./Custom Medical Stock Photo. Reproduced by permission. Turner syndrome © NMSB/Custom Medical Stock Photo. Reproduced by permission. Usher syndrome © L. Steinmark. Custom Medical Stock Photo. Reproduced by permission. Werner syndrome © NMSB/Custom Medical Stock Photo. Reproduced by permission. Wilson disease

©Science Photo Library/Photo Researchers, Inc. Reproduced by permission. Zygote © Dr. Yorgos Nikas/ Science Photo Library/Photo Researchers, Inc. Reproduced by permission.

Introduction

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 formulation 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 appreciation for all of their contributions.

Stephen Braddock, MD

Assistant Professor

Director, Missouri Teratogen Information Service

(MOTIS)

Division of Medical Genetics

University of Missouri-Columbia School of

Medicine

Columbia, Missouri

Cynthia R. Dolan, MS CGC

Clinical Director/Genetic Counselor

Inland Northwest Genetic Clinic

Spokane, Washington

Associate Editor

GeneClinics: Clinical Genetics Information

Resource

University of Washington School of Medicine

Seattle, Washington

Laith Farid Gulli, MD

MSc, MSc(MedSci), MSA, MscPsych, MRSNZ

FRSH, FRIPHH, FAIC, FZS

DAPA, DABFC, DABCI

Consultant Psychotherapist in Private Practice

Lathrup Village, Michigan

Katherine Hunt, MS

Senior Genetic Counselor/Lecturer

School of Medicine

University of New Mexico

Albuquerqe, New Mexico

Richard McCartney, MD

Diplomat, American Board of Surgery

Fellow, American College of Surgeons

Richland, Washington

William K. Scott, PhD

Assistant Research Professor

Center for Human Genetics

Duke University Medical Center

Durham, North Carolina

Roger E. Stevenson, MD

Director

Greenwood Genetic Center

Greenwood, South Carolina

GALE ENCYCLOPEDIA OF GENETIC DISORDERS

xiii