PPM - Achondroplasia Evaluation and Management-Description and References

Description and References

Pdf Summary

Achondroplasia is the most prevalent form of short limb skeletal dysplasia, affecting 1 in 10,000 to 30,000 live births annually. It is an autosomal dominant condition primarily caused by a mutation in the FGFR3 gene, leading to disproportionate short stature and various neurological, craniofacial, respiratory, and orthopedic complications. These potential complications include hydrocephalus, cervicomedullary compression, hypotonia, sleep apnea, frequent otitis media, thoracolumbar kyphosis, bony deformity, dental malocclusion, joint hypermobility, spinal stenosis, and secondary obesity. Though cognitive function remains unaffected, children typically experience gross motor delay due to hypotonia and ligamentous laxity, alongside possible speech issues from ear dysfunction. Characteristic features of achondroplasia include a large skull, rhizomelic limb shortening, narrow sciatic notch, flat acetabular roof, short vertebrae pedicles, short tubular bones, and trident hand, often seen in radiographic assessments during infancy. <br /><br />Management of achondroplasia necessitates continuous monitoring and anticipatory guidance to address these possible complications effectively, thus reducing associated morbidity and mortality. Genetic counseling plays a critical role in aiding families to understand the condition and prepare for potential challenges. The care framework emphasizes a multidisciplinary approach that integrates neurological, craniofacial, respiratory, and orthopedic assessments. Recent advancements include vosoritide therapy for children, showing promise in managing growth-related aspects of the condition. Current literature emphasizes these multidisciplinary care strategies and underscores the importance of continued research and updated guidelines to enhance the quality of life for individuals with achondroplasia. Most individuals with achondroplasia lead normal lives with proper management.

Keywords

achondroplasia

skeletal dysplasia

FGFR3 gene mutation

neurological complications

orthopedic complications

vosoritide therapy

genetic counseling

multidisciplinary care

gross motor delay

trident hand