Guiding Registry for Skeletal Dysplasia. Rational Approach in Classification

The official nosology and classification of genetic skeletal disorders lists more than 500 recognized diagnostic entities and groups them by clinical, radiographic and - if available - molecular data. The list helps in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists. It can be the basis of a nosology-guided skeletal dysplasia registry and archive. An archive using a slightly modified classification system has been established in Magdeburg/Germany. Its benefits include: i. guidance of molecular testing, ii. disclosure of genetic heterogeneity, iii. delineation of new disorders, iv. disclosure of etiopathogenetic relationships, v. individual prognostication through follow-up. These items are illustrated with examples from classification subgroup 7, the spondylometaphyseal dysplasias. In contrast to usual, passive depositories we expect classifying registries to be living tools connecting researchers, students, patients and their relatives with each other and with self-help organisations.