Etiology
Some skeletal dysplasias involve changes in genes that code for collagen or other structural elements of bone. Others involve misregulation of signaling pathways in bone development including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF, and transcription factors SOX9, RUNX2, and OSX. Different mutations in the same gene can lead to different types of dysplasia.
Some types of dysplasia include the following:
Condition Manifestations Gene Inheritance
Achondroplasia Fibroblast Growth Factor Receptor-3 (FGF-R3) AD
Multiple Epiphyseal Dysplasia Cartilage Oligomeric Matrix Protein (COMP) or
Spondyloepiphyseal Dysplasia
Schmidt Dysplasia
Janssen Dysplasia
Hypophosphatasia, Congenital
Achondrogenesis
Osteogenesis Imperfecta Collagen Type I
Diastrophic Dysplasia Sulfate Transporter
AD = Autosomal Dominant
OMIM (Online Mendelian Inheritance in Man) Number