Home Achondroplasia


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


Compression of spinal cord/ upper airway obstruction increased risk of death in infancy