Cover image for Dictionary of syndromes and inherited disorders
Dictionary of syndromes and inherited disorders
Gilbert, Patricia.
Personal Author:
Third edition.
Publication Information:
Chicago : Fitzroy Dearborn, [2000]

Physical Description:
xv, 373 pages ; 24 cm
General Note:
"Edited by Patricia Gilbert"--Cover.

Rev ed. of: The A-Z reference book of syndromes and inherited disorders / Patricia Gilbert. 2nd ed. 1996.

Includes index.
Format :


Call Number
Material Type
Home Location
Item Holds
RC69 .G55 2000 Adult Non-Fiction Central Closed Stacks

On Order



Soon to be published in its Third Edition, this now established reference work has been expanded to include additional syndromes and further information to aid the reader in contacting self-help groups. Dictionary of Syndromes and Inherited Disorders provides a practical reference for those with a syndrome or inherited disorder and for their caregivers. It describes the disorders and problems of both child and adult, and considers the day-to-day management of these conditions. It is written in non-technical language, so as to be comprehensible for a general audience, but with enough detail for the medical and nursing professions. The text is well indexed and has an extensive glossary.

Reviews 2

Booklist Review

The first U.S. edition (3d in the U.K.) of this dictionary lists 100 syndromes and inherited disorders that result in long-term or lifelong mental and physical problems. The disorders selected for inclusion are those for which help is available to alleviate some of the associated problems. Entries are arranged alphabetically from Achondroplasia to Zollinger-Ellison Syndrome and run from two to four pages. They include the condition's alternative name, incidence, history, causation, and characteristics. Management implications are covered from an interdisciplinary perspective and include medical, nursing, social-work, and educational aspects. Self-help and support groups (one or two) are listed. The dictionary would complement Grey House's The Complete Directory for People with Rare Disorders, which lists disorder-specific and organizational groups as well as government agencies that support individuals with rare disorders. Health-care and social-work professionals are the intended audience for Dictionary of Syndromes and Inherited Disorders. Health-science libraries may find it useful as a quick reference tool. A random check of the Internet brought up numerous recent authoritative Web sites covering many of the included disorders, and one wonders how long this type of reference book will remain relevant.

Choice Review

In the preface to this edition, Gilbert (Warwick Univ., UK) makes clear that her work is a subset of known syndromes, not an exhaustive scholarly coverage of medical syndromes. The inclusion criteria are that syndromes must result in long-term mental or physical problems and that organizations must exist that patients and their families can consult or actions they can take to help improve quality of life. The resource therefore contains 100 alphabetically arranged entries, many of which relate to signs and symptoms seen in childhood that continue throughout life. Compared to the thousands of entries and cross-references in standard resources like Stanley Jablonski's Dictionary of Syndromes and Eponymic Diseases (2d ed., 1991) or Sergio Magalini's Dictionary of Medical Syndromes (4th ed., 1997), Gilbert's book seems brief. It also lacks the bibliographic references that both Jablonski and Magalini provide for each entry. Gilbert's entries, however, helpfully expand on important aspects of medical syndromes: alternative names, frequency of occurrence, history, causes, characteristics, management implications, self-help groups, quality of life, and life span for patients. The book contains a glossary of highly technical and more common medical terms and an extensive index. Recommended for undergraduates and nonmedical professionals seeking to learn the fundamentals about relatively well-known medical syndromes. R. D. McKinney; University of Chicago

Table of Contents

Forewordp. ix
Prefacep. xi
Preface to the Third Editionp. xiii
Acknowledgmentsp. xv
The Effects of Handicapp. 1
Achondroplasiap. 9
Aicardi Syndromep. 14
Albinismp. 18
Albright Syndromep. 21
Alport Syndromep. 25
Angelman Syndromep. 29
Ankylosing Spondylitisp. 32
Apert Syndromep. 35
Arthrogryposisp. 38
Asperger Syndromep. 41
Ataxia Telangiectasiap. 45
Batten Diseasep. 48
Beckwith-Wiedemann Syndromep. 52
Charcot-Marie-Tooth Diseasep. 56
CHARGE Associationp. 59
Christmas Diseasep. 63
Cockayne Syndromep. 66
Coffin-Lowry Syndromep. 68
Cohen Syndromep. 70
Congenital Central Hypoventilation Syndromep. 73
Cornelia De Lange Syndromep. 76
Cri Du Chat Syndromep. 79
Crouzon Syndromep. 82
Cystic Fibrosisp. 85
Down Syndromep. 90
Duchenne Muscular Dystrophyp. 95
Edwards Syndromep. 99
Ehlers-Danlos Syndromep. 102
Ellis-Van Creveld Syndromep. 106
Epidermolysis Bullosap. 109
Fabry Diseasep. 112
Fetal Alcohol Syndromep. 115
Fragile X Syndromep. 118
Friedrich Ataxiap. 121
Galactosemiap. 124
Gaucher Diseasep. 127
Goldenhar Syndromep. 130
Gorlin Syndromep. 134
Guillain-Barre Syndromep. 136
Hemolytic Uremic Syndromep. 138
Hemophilia Ap. 142
Holt-Oram Syndromep. 146
Homocystinuriap. 149
Hunter Syndromep. 152
Hurler Syndromep. 156
Hypertrophic Cardiomyopathyp. 160
Icthyosisp. 164
Johanson-Blizzard Syndromep. 166
Kartagener Syndromep. 169
Klinefelter Syndromep. 173
Klippel-Feil Syndromep. 176
Landau-Kleffner Syndromep. 179
Laurence-Moon-Bardet-Biedl Syndromep. 182
Lennox-Gastaut Syndromep. 186
LEOPARD Syndromep. 190
Lowe Syndromep. 193
Marfan Syndromep. 196
Moebius Syndromep. 200
Morquio Syndromep. 203
Nephrotic Syndromep. 207
Neurofibromatosisp. 211
Niemann-Pick Diseasep. 216
Noonan Syndromep. 220
Ollier Diseasep. 224
Osteogenesis Imperfectap. 227
Patau Syndromep. 231
Phenylketonuriap. 234
Pierre-Robin Syndromep. 237
Prader-Willi Syndromep. 240
Retinitis Pigmentosap. 244
Rett Syndromep. 247
Reye Syndromep. 250
Riley-Day Syndromep. 253
Rubinstein-Taybi Syndromep. 256
Sanfilippo Syndromep. 259
Shwachman Syndromep. 262
Sickle Cell Anemiap. 265
Silver-Russell Syndromep. 270
Sjogren-Larsson Syndromep. 273
Smith-Lemli-Opitz Syndromep. 276
Smith-Magenis Syndromep. 279
Sotos Syndromep. 282
Spinal Muscular Atrophyp. 285
Stickler Syndromep. 289
Sturge-Weber Syndromep. 292
TAR Syndromep. 294
Tay-Sachs Diseasep. 298
Thalassemiap. 301
Tourette Syndromep. 305
Treacher Collins Syndromep. 308
Tuberous Sclerosisp. 311
Turner Syndromep. 314
Usher Syndromep. 319
VATER Associationp. 323
Vitiligop. 326
Waardenburg Syndromep. 328
West Syndromep. 332
Williams Syndromep. 335
Wolf-Hirshhorn Syndromep. 338
Zollinger-Ellison Syndromep. 341
Glossaryp. 345
Indexp. 351