Skeletal dysplasias and the growth plate

• Published in: Clinical genetics 2008-01, Vol.73 (1), p.24-30
• Main Author: Alman, BA
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Bone Diseases, Developmental - classification; Bone Diseases, Developmental - etiology; Bone Diseases, Developmental - genetics; Chondrocytes - pathology; classification; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation, Developmental; General aspects. Genetic counseling; Genes, Regulator; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; growth plate; Growth Plate - pathology; Growth Plate - physiopathology; Human growth; Humans; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular biology; Proteins; skeletal dysplasias; Skeletal system
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.2007.00933.x

Skeletal dysplasias are disorders in which there is derangement in the growth or shape of the skeleton. Long bone grows from cartilage that persists near the ends until skeletal maturity as the growth plate. Developmental biology work has identified the major regulatory proteins in growth plate chondroyte function. There are hundreds of skeletal dysplasias, and the molecular genetic etiology of many was defined in the past decade and a half. Now that the causative genes for these disorders have been identified, they can be broadly classified by the function of the protein that these genes encode for into disorders caused by extracellular structural proteins, proteins that regulate normal growth plate chondrocyte differentiation and patterning, and enzymes that process these proteins. There are clinical similarities within each group, and the phenotype can be predicted based on the role of the mutated protein in normal growth plate function. As such, this framework to classify the skeletal dysplasias has practical clinical implications.