The entries are from one to four pages long. They include a definition of the subject, a description of the disorder, genetic profile, demographics, signs and symptoms, diagnosis, treatment and management, and prognosis. Color boxes have definitions of key terms. The articles also have resource lists. Over 200 illustrations, including color photographs and pedigree charts, supplement the text. A symbol guide for the pedigree charts, gene maps, a glossary, a list of organizations, and an index complete the work. There are ample cross-references within the articles.
Although some articles, such as Tay-Sachs disease, are virtually unchanged from the first edition of The Gale Encyclopedia of Medicine (1999), most of the entries are new or major revisions. The broad scope of the encyclopedia, which covers both common (Asthma) and rare (Simpson-Golabi-Behmel syndrome ) disorders, makes it a very useful resource. The second edition of the Encyclopedia of Genetic Disorders and Birth Defects (Facts On File, 2000) has a nice history of human genetics, but its entries on the disorders are quite short. The Genetic Disorders Sourcebook (2d ed., Omnigraphics, 2000) and the Congenital Disorders Sourcebook (2d ed., Omnigraphics, 2000) cover only the more common disorders.
Families affected by genetic or congenital disorders and students writing reports will find accurate, current information in The Gale Encyclopedia of Genetic Disorders. Public libraries and consumer health collections will find it well worth the price.