Weekly Spotlight - 27.11.24

Community

We want to hear your story!

Fill in the form to share your experiences and any challenges you’ve faced living with your condition, for a chance to be featured in one of our weekly newsletters!

Latest News

Ocular Anomalies in Achondroplasia: A Case Study of Hopeful Insights

A man with achondroplasia experienced multiple eye anomalies, including optic disc coloboma and morning glory disc, leading to vision loss. Despite no treatment options, regular monitoring and protective eyewear were advised. The case highlights the importance of screening achondroplasia patients for ocular disorders to preserve vision. 

Spinal Cord Compression in Infants with Achondroplasia: Key Findings

The study highlights the importance of MRI screening for infants with achondroplasia and AFMS3, as over 40% may progress to needing neurosurgery. Regular follow-up MRIs are recommended every six months to detect changes early, ensuring timely intervention and support for affected families. 

Genetic Advances Offer Hope for Achondroplasia Management

Genetic insights into achondroplasia, a common form of dwarfism, highlight the importance of early diagnosis and a multidisciplinary approach. Mutations in the FGFR3 gene cause skeletal abnormalities, requiring comprehensive care. Ongoing research offers hope for future treatments, emphasising the need for genetic testing and holistic management to improve patient outcomes. 

Infigratinib Shows Promise for Children with Achondroplasia

The study found oral infigratinib safe and effective for children with achondroplasia, increasing height velocity without major safety issues. Conducted over 18 months, the trial showed promising results, offering a hopeful alternative to daily injections. This development could significantly improve quality of life for affected children and their families.