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:

• Rhizomelic shortening of the limbs: Disproportionate shortening primarily affecting the proximal segments of the arms and legs is a hallmark feature, often described as rhizomelic dwarfism NICE NG127 Shelmerdine et al. 2016.
• Macrocephaly with frontal bossing: An enlarged head circumference with a prominent forehead is commonly observed in affected children NICE NG127 Merchant et al. 2025.
• Midface hypoplasia: Underdevelopment of the midfacial region leading to a characteristic facial appearance is typical NICE NG127 Merchant et al. 2025.
• Trident hand configuration: The fingers may appear short with a separation between the middle and ring fingers, creating a trident-like shape NICE NG127 Shelmerdine et al. 2016.
• Hypotonia and delayed motor milestones: Mild hypotonia and delays in motor development can be present, necessitating careful neurological assessment NICE NG127 Merchant et al. 2025.
• Spinal abnormalities: Features such as lumbar lordosis, thoracolumbar kyphosis, and potential for spinal stenosis should be considered during clinical evaluation NICE NG127 Merchant et al. 2025.
• Radiological findings: Although not a clinical feature per se, confirmation often involves imaging showing characteristic skeletal changes including shortened long bones with metaphyseal flaring and narrowed interpedicular distances in the lumbar spine Shelmerdine et al. 2016.

Early recognition of these features is critical for diagnosis and timely management, as highlighted by recent literature emphasizing the importance of early diagnosis to improve growth outcomes and reduce complications Li & Xiong 2025.