What are the key clinical features to consider when diagnosing achondroplasia in a child?

Key clinical features to consider when diagnosing achondroplasia in a child include:

• Short stature with disproportionate limb shortening: Specifically, rhizomelic shortening (proximal segments of limbs) is characteristic, although recent studies suggest the pattern may be more complex than traditionally described ¹ (Shelmerdine et al., 2016).
• Macrocephaly with frontal bossing: An enlarged head with prominent forehead is a common craniofacial feature ¹ (Merchant et al., 2025).
• Midface hypoplasia: Underdevelopment of the midface region contributes to the characteristic facial appearance ¹ (Merchant et al., 2025).
• Trident hand configuration: The fingers appear short with a separation between the middle and ring fingers, creating a trident-like shape ¹ (Merchant et al., 2025).
• Hypotonia and delayed motor milestones: Muscle tone may be reduced, and motor development can be delayed, which should prompt further assessment ¹ (Merchant et al., 2025).
• Radiological features: Characteristic findings on skeletal X-rays include shortened long bones with metaphyseal flaring, narrowed interpedicular distances in the lumbar spine, and a small foramen magnum ¹ (Shelmerdine et al., 2016).
• Genetic confirmation: While clinical features are often sufficient for diagnosis, confirmation by identifying FGFR3 gene mutation is considered the gold standard, especially in atypical cases or for early diagnosis ¹ (Li and Xiong, 2025).

Early recognition of these features is important to initiate appropriate management and surveillance for complications ¹ (Merchant et al., 2025; Li and Xiong, 2025).