Cranioectodermal Dysplasia (CED)

Cranioectodermal Dysplasia, also known as sensenbrenner syndrome, is related to cranioectodermal dysplasia 1 and short-rib thoracic dysplasia 5 with or without polydactyly. An important gene associated with Cranioectodermal Dysplasia is WDR19 (WD Repeat Domain 19), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. The drugs Technetium Tc 99m bicisate and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are frontal bossing and abnormality of the dentition