Cornelia de Lange syndrome (CdLS) is considered a rare genetic disorder, affecting approximately 1 in 10,000 to 30,000 newborns.
While this represents the current estimated incidence, it's important to acknowledge that the rarity of CdLS might be underestimated. The reasons for this include:
- Underdiagnosis: Individuals with milder forms of CdLS, or those displaying uncommon characteristics, may not be accurately diagnosed.
- Diagnostic Challenges: CdLS diagnosis can be complex, requiring careful clinical evaluation and genetic testing. Subtle presentations of the syndrome might be missed.
Therefore, the true prevalence of CdLS within the population may be higher than currently reported. Continued research and improved diagnostic techniques are crucial for a more accurate understanding of its frequency.
