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Cranioectodermal Dysplasia |11587|
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“Sensenbrenner syndrome (Cranioectodermal Dysplasia)”  

Cranioectodermal Dysplasia

  In our body, Sensenbrenner syndrome (Cranioectodermal Dysplasia) is a heterogeneous ciliopathic dis-order, characterized by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, liver fibrosis and other features, indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge caused by disrupted IFT-A-mediated retrograde ciliary transport (IFT43 gene). *
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References & Citations:
1. Arts HH. et al "C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome"   J Med Genet. 2011 Jun;48(6):390-5  
 
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