International nosology of heritable disorders of connective tissue, Berlin, 1986

The heritable disorders of connective tissue have proven to be very heterogeneous and problems have arisen concerning syndromic boundaries, nomenclature, and classification. In an attempt to resolve these dilemmas, a group of experts participated in a Workshop held during the 7th International Congress of Human Genetics, Berlin, in September, 1986. At the Workshop, overviews were given of the uses and limitations of nosology (McKusick), diagnostic criteria (Pyeritz), and practical issues in biochemical and molecular diagnosis (Hollister). Invited speakers then gave brief comments on the current status of the nosology of specific categories of inherited connective tissue disorders and made recommendations for possible modification. The Workshop was followed by two closed committee meetings at which the participants attempted to reach agreement on syndromic definition and a standardized nomenclature. The final proposals, with brief comment where relevant, form the subject of this communication.