Hereditary Skeletal Diseases with a Special Focus on Genetic Inflammatory/Rheumatoid Osteoarthropathies

作者：Zabel B; Lausch E; Matysiak U; Mohnike K^*

来源：Aktuelle Rheumatologie, 2016, 41(5): 377-382.

DOI：10.1055/s-0042-105951

• skeletal dysplasia
• arthritis autoinflammatory diseases
• genetics

Nosology as a systemic classification of disorders is of major importance in the field of rare diseases. A special role is taken by over 500 rare genetic disorders of the skeleton, for which experts from the International Skeletal Dysplasia Society (ISDS) provide a new filing system and classification every 4 years 1. The most recent version published by Bonafe et al. 2 is based on the criteria of the previous version 3 and includes conditions (i) with significant involvement of cartilage and bone, meaning skeletal dysplasias, metabolic bone disorders, dysostoses, and skeletal malformation and/or reduction syndromes; (ii) publicised diseases with skeletal involvement, which are listed with a MIM number; (iii) diseases with bone symptoms and a genetic basis proven by pedigree or very likely based on homogeneity of phenotype in unrelated families; (iv) disorders whose nosologic classification is based on functional analysis. Looking at the list of 42 disease groups, we have focused our interest on group 31, the genetic inflammatory/rheumatoid osteoarthropathies.

• 出版日期2016-10