Question: How many people are affected by cranioectodermal dysplasia ?
Answer: Cranioectodermal dysplasia is a rare condition with an unknown prevalence. Approximately 40 cases of this condition have been described in the medical literature.
Source: GHR

Question: What are the genetic changes related to cranioectodermal dysplasia ?
Answer: Cranioectodermal dysplasia is caused by mutations in one of at least four genes: the WDR35, IFT122, WDR19, or IFT43 gene. The protein produced from each of these genes is one piece (subunit) of a protein complex called IFT complex A (IFT-A). This complex is found in finger-like structures called cilia that stick out from the surface of cells. These structures are important for the development and function of many types of cells and tissues. The IFT-A complex is involved in a process called intraflagellar transport, which moves substances within cilia. This movement is essential for the assembly and maintenance of these structures. The IFT-A complex carries materials from the tip to the base of cilia. Mutations in any of the four mentioned genes reduce the amount or function of one of the IFT-A subunits. Shortage or abnormal function of a single component of the IFT-A complex impairs the function of the entire complex, disrupting the assembly and maintenance of cilia. These mutations lead to a smaller number of cilia and to abnormalities in their shape and structure. Although the mechanism is unclear, a loss of normal cilia impedes proper development of bone, ectodermal tissues, and other tissues and organs, leading to the features of cranioectodermal dysplasia. About 40 percent of people with cranioectodermal dysplasia have mutations in one of the four known genes. The cause of the condition in people without mutations in one of these genes is unknown.
Source: GHR

Question: What are the treatments for cranioectodermal dysplasia ?
Answer: These resources address the diagnosis or management of cranioectodermal dysplasia: - Gene Review: Gene Review: Cranioectodermal Dysplasia - Genetic Testing Registry: Cranioectodermal dysplasia 1 - Genetic Testing Registry: Cranioectodermal dysplasia 2 - Genetic Testing Registry: Cranioectodermal dysplasia 3 - Genetic Testing Registry: Cranioectodermal dysplasia 4 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR