- In April 2025, at the Annual Clinical Genetics Meeting, researchers presented new findings involving balanced chromosomal translocations upstream of the SOX9 gene. These disruptions affect regulatory regions crucial to skeletal development and may lead to atypical Campomelic Dysplasia cases, improving the scope for prenatal diagnosis
- In March 2025, a case study published in the Journal of Clinical Research in Pediatric Endocrinology identified two novel SOX9 mutations (p.Arg107Gly and p.Ala116Val) in Indonesian patients with Campomelic Dysplasia. The findings expand the global mutation database and emphasize the importance of molecular screening for early diagnosis
- In April 2023, GeneReviews updated its entry on Campomelic Dysplasia, enhancing clinical management protocols, SOX9 gene mutation testing, and recommendations for multidisciplinary care. The update provides clinicians with refined diagnostic and therapeutic guidance to improve patient outcomes
- In January 2023, Orphanet and NORD (National Organization for Rare Disorders) reiterated existing treatment approaches for Campomelic Dysplasia. These include surgical interventions for skeletal malformations, respiratory therapy, cochlear implants for hearing impairment, and multidisciplinary support for comprehensive care
