Cranioectodermal dysplasia 2

Common Name(s)

Cranioectodermal dysplasia 2

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by {1:Arts et al., 2011}). For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 ({218330}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cranioectodermal dysplasia 2" for support, advocacy or research.

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.