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 NICE NG127 Shelmerdine et al. 2016.
• Macrocephaly with frontal bossing: An enlarged head with prominent forehead is a common craniofacial feature NICE NG127 Merchant et al. 2025.
• Midface hypoplasia: Underdevelopment of the midface region contributes to the characteristic facial appearance NICE NG127 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 NICE NG127 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 NICE NG127 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 NICE NG127 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 NICE NG127 Li & Xiong 2025.

Early recognition of these features is important to initiate appropriate management and surveillance for complications NICE NG127 Merchant et al. 2025Li & Xiong 2025.