Osteochondrodysplasia

Introduction

Osteochondrodysplasias (skeletal dysplasias) are composed of more than 450 disorders that result in skeletal abnormalities due to mutations in genes that are vital to skeletal maturation and growth. Each specific type of skeletal dysplasia is very rare, with achondrodysplasia being the most common with a prevalence of 1 in 25,000 births. The collective incidence of these disorders is estimated to be 1 per 4,000 births, although some studies suggest that this may underestimate the true incidence.

These disorders have historically been categorized into 3 broad subtypes: osteodysplasias, chondrodysplasias, and dystoses. Frequently, the classification of various subtypes of skeletal dysplasias is challenging due to the genetic variance of these disorders, which may involve abnormalities in cartilage and bone development. With improvements in molecular testing, more than 350 genes have been identified, with COL2A and FGFR as the most commonly identified genetic loci involved in skeletal dysplasias. Given the heterogeneity of these conditions, The International Skeletal Dysplasia Society in 2015 revised the conditions to 42 groups defined by various molecular, biochemical, and radiographic criteria.

Throughout this In Brief, the presentation of various types of osteochondrodysplasias will be discussed, including their clinical manifestations, what to consider while eliciting the medical and family history, various diagnostic features, and tips on how to provide the best care to these patients.

Clinical Presentation and Evaluation

Individuals with skeletal dysplasias typically present with disproportionate short stature, where the skeletal growth differs between the limbs and the trunk, …