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Classifying functional manifestations of ectodermal dysplasias
Author(s) -
Simeonsson Rune J.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32991
Subject(s) - international classification of functioning, disability and health , context (archaeology) , grey literature , documentation , classification scheme , medicine , psychology , medline , rehabilitation , data science , physical therapy , biology , paleontology , biochemistry , computer science , programming language
Ectodermal dysplasias (ED) encompass more than 200 conditions involving some combination of disorders of hair, nails, teeth, and sweat glands. The incidence of ED is relatively rare affecting about 7 of 10,000 births [Itin and Fistarol (2004)]. Individuals manifesting ED present with a wide range of disorders involving hair, nails, teeth, and sweat glands and in many cases other characteristics as well. The complex nature of the disorder has presented challenges for clinical practice and required the involvement of multiple approaches and disciplines. It has also resulted in significant research initiatives on cause and symptomatology. A significant challenge has been the search for comprehensive documentation of the varied and complex manifestations associated with ED. Existing classification systems of ED have focused on physiological and structural dimensions. Classification approaches with a broader focus including characteristics of functioning in persons with ED could facilitate clinical work and research initiatives. In this context, the potential utility of available classifications that address functioning and disability would be appropriate to consider in the search for a consensus classification of ED. To that end, the purpose of this article is to (a) review the status of classification of ED, (b) provide a brief overview of the International Classification of Functioning, Disability and Health‐Children and Youth, ICF‐CY [World Health Organization (2007); International Classification of Functioning, Disability and Health‐Children and Youth. Geneva: WHO.], and (c) identify possible contributions of the ICF‐CY to classification of ED's. © 2009 Wiley‐Liss, Inc.