Recognizing and Diagnosing Achondroplasia

In this episode, “Recognizing and Diagnosing Achondroplasia,” the panelists explore how achondroplasia is identified clinically and radiographically and how genetic testing can confirm the diagnosis.

The discussion begins with the characteristic phenotype seen in infants with achondroplasia. The panel highlights disproportionate shortening of the limbs, particularly rhizomelic shortening of the proximal extremities, along with macrocephaly, midface hypoplasia, and characteristic findings involving the hands and joints. For clinicians experienced in skeletal dysplasias, this combination of features can make the diagnosis highly recognizable. The panel then reviews radiographic findings that can further support the diagnosis, including characteristic changes involving the pelvis, acetabula, and proximal femur. Once achondroplasia is suspected, molecular confirmation of an FGFR3 mutation becomes an important step before treatment discussions begin.

Prenatal identification is also addressed. The experts note that achondroplasia is often not apparent on the standard 20-week anatomy scan, but third-trimester imaging may reveal shortened long bones, frontal bossing, or midface abnormalities that raise suspicion. They also discuss the increasing availability of noninvasive prenatal testing using maternal blood to detect the characteristic FGFR3 mutation once the condition is suspected. Together, these advances are helping move diagnosis earlier in the patient journey and may provide families with additional time for counseling and preparation before or shortly after birth.

The next episode, “Recognizing the Multisystem Burden of Achondroplasia,” will examine what happens after diagnosis. The panel will discuss the neurologic, respiratory, skeletal, and developmental complications that require ongoing surveillance throughout childhood.