Achondroplasia and Related FGFR3 Conditions

Abstract

This chapter discusses achondroplasia and related FGFR3 conditions and explores thanatophoric dysplasia (Types 1 and 2), achondroplasia, hypochondroplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.