PPM - Achondroplasia Evaluation and Management-Description and References

Description and References

Pdf Summary

Achondroplasia, a skeletal dysplasia characterized by disproportionate short stature, requires ongoing monitoring for potential complications. These complications can affect the neurological, craniofacial, respiratory, and orthopedic systems. The condition is relatively common, with an estimated incidence of 1 in 10,000-30,000 live births per year. Along with the physical symptoms, individuals with Achondroplasia can also experience sudden infant death, making surveillance for potential complications crucial for reducing morbidity and mortality.<br /><br />Possible medical issues associated with Achondroplasia include hydrocephalus, cervicomedullary compression, hypotonia, sleep apnea, otitis media with potential hearing loss, kyphosis, dental malocclusion, joint hypermobility, spinal stenosis, and secondary obesity. Achondroplasia is caused by a gain of function mutation in the fibroblast growth factor 3 (FGFR3) gene, resulting in a specific genetic change. Radiographic findings, such as a large skull, rhizomelic shortening, and other skeletal abnormalities, can aid in the diagnosis of Achondroplasia.<br /><br />Management of Achondroplasia involves evaluating, documenting, and planning anticipatory guidance for potential complications based on the individual's age. Additionally, providing genetic counseling to affected families is essential. While individuals with Achondroplasia may experience motor delay and speech issues due to middle ear dysfunction, cognitive function is typically unaffected. Most adults with Achondroplasia have a normal lifespan.<br /><br />Literature on Achondroplasia highlights the importance of optimal management and offers insights into current care and investigational therapies. Resources include research articles discussing complications, health supervision for children, and genetic reviews. The monitoring and management of Achondroplasia aim to minimize the impact of complications and improve overall quality of life for individuals with this condition.

Keywords

Achondroplasia

skeletal dysplasia

complications

respiratory

orthopedic systems

hydrocephalus

sleep apnea

spinal stenosis

genetic counseling

quality of life