Defining Characteristics
Short stature w/ disproportionately short arms/legs, macrocephaly, frontal bossing, mid-face hypoplasia, hypotonia in infancy, delayed developmental milestones
Disease Development
Mutations in FGFR3 genes cause excessive signaling of FGFR3, resulting in impaired chondrocyte fx w/I epiphyseal growth plates
Potential Causes
Dominant inheritance pattern
Complications
Compression of spinal cord/ upper airway obstruction increased risk of death in infancy