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About Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
Purpose: This online resource has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information which, because of space the limitations of the printed form, is usually limited or completely omitted in the existing reference sources.
Scope: Of approximately 1600 to 2000 syndromes in which multiple congenital anomalies are associated with mental retardation, over 700 are included in this resource. Additional multiple congenital anomaly/mental retardation (MCA/MR) syndromes will be added in future updates. Also included in the scope are chromosomal aberrations and X-linked mental retardation, some of which are not routinely designated in the literature as "syndromes," but they possess sufficient syndromic characteristics to be included. Other syndromes are described in Jablonski, S. Dictionary of Syndromes and Eponymic Diseases. 2nd ed. Malabar, FL, Krieger, 1991.
Format: The format is categorized with listing of specific features under broader headings in a hierarchical order to provide access to information through the use of Boolean search strategies on both specific and general levels.
Linkage to MESH: Listing of subject headings under which the literature on syndromes may be accessed in the MEDLINE database. In the event that no specific MESH heading for a syndrome in question exists, a cluster of headings is given to be used as a Boolean search formulation.
Linkage to UMLS: The Unified Medical Language System is a National Library of Medicine project whose aim is to help to retrieve and integrate electronic biomedical information from a variety of sources and to make it easy for users to link disparate information systems, including computer-based patient records, bibliographic databases, factual databases, and expert systems.
Linkage to OMIM: A number referring to syndrome description in Online Mendelian Inheritance in Man.
Synonyms: A complete list of synonyms is given to help in identifying syndromes known by different names.
Personalia: Eponymous names are supplemented by personal data which are given for historical reasons and to assist in differentiation of syndromes named after different persons with the same surnames.
Stanley JablonskiSeptember 22, 1999
©Copyright 1999 Stanley Jablonski
Last updated: 26 April 2001