Genetic Disorders

o Genetics is defined as the scientific study of inheritance, variation of biologic traits, and genes, including their structure, function, variation, and transmission. Human genetics is expanding rapidly and as it consists of a growing numbers of syndromes and disorders it is hard to remember and differentiate all of them.

o There are many genetic data resources on the web which provide useful online information; one of the most popular of these is "Online Mendelian Inheritance in Man" or "OMIM". This database was foundated in early 1960s by Dr. Victor A. McKusick and published as twelve book edition between 1966 and 1988. In 1995, it was issued on the web by NCBI, the National Center for Biotechnology Information, by the authorization and edition of McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

Unfortunately, the huge number of online web pages would not permit an easy offline access to these data. Therefore, in recent years I decided to gather, summarize, and issue the most useful part of the OMIM database, ie the clinical findings of syndromes and genetic disorders in the present book. At the time of preparing this book, the whole database consists of more than 20,000 items but about 4,800 of them have distinct heading for clinical symptoms.

o Manual of Clinical Findings in Syndromes and Genetic Disorders can be a rapid guide reference for physicians, medical students, and other healthcare providers who are visiting or counseling patients with genetic problems.

Faermehr Abtahei MD.