Camurati–Engelmann Disease (CED), also known as Progressive Diaphyseal Dysplasia (OMIM #131300), is a rare condition inherited in an autosomal dominant (AD) pattern, caused by heterozygous variants in the Transforming Growth Factor Beta 1 (TGFB1) gene, which plays a crucial role in bone regeneration [1,2]. The gene discussed is TGFB1; the disease is cranioectodermal dysplasia.