Wikis > Orthopaedics > Bone and Joint/Skeletal Dysplasia/Osteochrondroplasia > Achondroplasia/Fibroblast Growth Factor 3 Disorder
Achondroplasia/Fibroblast Growth Factor 3 Disorder:
Most common skeletal dysplasia
Autosomal dominant – most cases (80%) are new mutation has low incidence of family history. Most common form of dwarfism. 1 in 30,000- 50,000
Mutation is in the gene coding for fibroblast growth factor receptor 3 (FGFR3) causes a single amino acid change (glycine replaces arginine) in cell receptor on all prebone cartilage and CNS inhibition of chondrocyte proliferation in proliferative zone of growth plate
Clinical features:
Facial bossing and midface hypoplasia
Extramities shorter
Lower limb:
Varus deformity.
Tibial torsion- fibula often longer than tibia varus push on talar
Management:
Body weight management is important
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