CLARITY: Co‐occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus

• Published in: American journal of medical genetics. Part A 2021-04, Vol.185 (4), p.1168-1174
• Main Authors: Legare, Janet M., Pauli, Richard M., Hecht, Jacqueline T., Bober, Michael B., Smid, Cory J., Modaff, Peggy, Little, Mary Ellen, Rodriguez‐Buritica, David F., Serna, Maria Elena, Alade, Adekemi Yewande, Liu, Chengxin, Hoover‐Fong, Julie E., Hashmi, S. Shahrukh
• Format: Article
• Language: English
• Subjects: Achondroplasia; Bone dysplasia; Cranial sutures; Craniosynostosis; Diabetes; Diabetes mellitus; Dysplasia; FGFR3; natural history study; seizure; Seizures; Skeleton
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.62096

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.