Achondroplasia is the most common disproportionate short statured skeletal dysplasia with a prevalence of approximately 1:20,000–30,000. We created the largest database to date of a historical cohort of 1374 patients with achondroplasia (CLARITY—aChondropLasia nAtuRal hIsTory studY). This cohort was queried for the presence of unrecognized or under‐recognized features associated with achondroplasia. Craniosynostosis was found to co‐occur with achondroplasia in 9 (0.65%) patients in this cohort, which is much higher than the general population prevalence of 3.1–7.2 per 10,000. In addition, 27 patients had seizures (2.0%), an apparent excess as compared to the general population. Only two people had diabetes despite a high rate of adult obesity. This report documents for the first time an increased prevalence of craniosynostosis in persons with achondroplasia, and adds support to previous observations of an apparently higher than expected prevalence of seizures and lower prevalence of diabetes mellitus.

中文翻译：

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CLARITY：软骨发育不全的同时发生——颅缝早闭、癫痫和糖尿病风险降低

软骨发育不全是最常见的不成比例的身材矮小骨骼发育不良，患病率约为 1:20,000-30,000。我们创建了迄今为止最大的数据库，其中包含 1374 名软骨发育不全患者的历史队列（CLARITY-aChondropLasia nAtuRal历史研究）。询问该队列是否存在与软骨发育不全相关的未被识别或未被识别的特征。在该队列中，9 名 (0.65%) 患者发现颅缝早闭与软骨发育不全同时发生，这远高于一般人群中每 10,000 人 3.1-7.2 的患病率。此外，27 名患者出现癫痫发作 (2.0%)，与一般人群相比明显过量。尽管成人肥胖率很高，但只有两人患有糖尿病。