Changes in skeletal dysplasia nosology

Abstract

Skeletal dysplasia (SD), also called osteochondrodysplasia (OCD), is a large group of skeletal disorders (over 400 distinct entities) caused by abnormalities in bone development and growth. SDs varies according to different natural histories, prognoses, hereditary patterns to etiopathogenetic mechanisms. At birth, the incidence is low, reported at the level of each entity, but taken collectively; the incidence is estimated at 1:5000 births. Nosology is a branch of medical science. It deals with the systematic classification of diseases and disorders. Thus, combining information about the catalogue of clinically distinct disorders, pending molecular explanations, and genotype-phenotype correlations, the classification of SDs will be more accurate. This is extremely useful for diagnosing patients with genetic skeletal diseases, especially given the expected flow of information with new sequencing technologies. Over the years, various terms and classifications of SD have been used and have attempted to order and classify this group of genetic diseases according to clinical, radiological, and molecular criteria. In 2019, the Nosology Committee of the International Skeletal Dysplasia Society (ISDS) updated the classification of SD. This new classification divides SD into 42 large groups that include 461 entities. Advances in next-generation sequencing techniques have revolutionized the entire field of genetics, with 437 different genes are currently identified in 426 (92.4%) of SDs. Nosology is a real help for the clinician in establishing a diagnosis as accurately as possible, for the recognition of new diseases while serving as a guide for the interpretation of new genetic variants.

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report

“…Skeletal dysplasia, also called osteochondrodysplasia, refers to a group of skeletal disorders resulting from abnormalities in bone development and growth [1,2]. Up to Genes 2024, 15, 225 2 of 10 771 distinct entities have been identified and classified into 41 groups in the 11th updated nosology of genetic skeletal disorders established by the Nosology Group of the International Skeletal Dysplasia Society (ISDS) [3].…”

“…Up to Genes 2024, 15, 225 2 of 10 771 distinct entities have been identified and classified into 41 groups in the 11th updated nosology of genetic skeletal disorders established by the Nosology Group of the International Skeletal Dysplasia Society (ISDS) [3]. Its global incidence is estimated at 1:5000 births [1,4]. The number of identified genes reached 552 in the 2023 revised nosology [3].…”

Overview of Skeletal Dysplasias

“…According to the Nosology of Genetic Skeletal Disorders, 2023 revision, genetic skeletal disorders encompass 771 entries resulting from variants in 552 known genes, and they are classified into 41 groups (Table I) (3). Due to clinical diversity, genetic heterogeneity, and individually rarity, recognizing them is not always easy (5,6). Obtaining a medical history, drawing a pedigree, physical examination, and assessment of radiographs in detail are essential in the evaluation of the patients with skeletal dysplasias.…”