Achondroplasia

• 1 in 25,000
• Autosomal dominant inheritance
• When both parents have achondroplasia, the risk to their children of having
homozygous achondroplasia (a lethal condition) is 25 percent and of having achondroplasia is
50 percent.
• defect appears to be in the FGFR3 gene which is responsible in transforming cartilage
to bone

Features
• macrocephaly
• Frontal bossing
• Depressed nasal bridge
• Midface hypoplasia
• Increased lower facial height
• Crossbite
• Ci iii malocclusion
• Macroglossia and tongue-thrust swallowing pattern with AOB
• Obstructive sleep apnea – Midface retrusion in conjunction with adenoid and tonsil
enlargement can reduce the airway space, leading to obstructive sleep apnea (OSA). OSA is
clinically manifested by loud snoring, breath holding during sleep (apnea), poor sleep, poor
school performance, and behavioral problems in some cases
• Prenatal diagnosis of achondroplasia is usually suspected on routine ultrasound with
the image of shortened long bones and can be confirmed by molecular testing (FGFR3
mutational testing) of prenatal specimens