Cranioectodermal Dysplasia

Common Name(s)

Cranioectodermal Dysplasia

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies (summary by {5:Gilissen et al., 2010}). Genetic Heterogeneity of Cranioectodermal Dysplasia Also see CED2 ({613610}), caused by mutation in the WDR35 gene ({613602}) on chromosome 2p24; CED3 ({614099}), caused by mutation in the IFT43 gene ({614068}) on chromosome 14q24; and CED4 ({614378}), caused by mutation in the WDR19 gene ({608151}) on chromosome 4p14. In a review, {9:Lin et al. (2013)} found that of 14 of 39 patients with Sensenbrenner syndrome who had a molecular diagnosis, 6 (43%) had mutations in WDR35, 4 in IFT122, 2 in WDR19, and 2 in IFT43.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

Last Updated: 12 Feb 2018

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

National Foundation for Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias’ mission is to empower and connect people touched by ectodermal dysplasias through education, support, and research.

http://www.nfed.org

Last Updated: 12 Feb 2018

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cranioectodermal Dysplasia" returned 3 free, full-text research articles on human participants. First 3 results:

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
 

Author(s): Joanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, Desmond A Brown, Francesco Emma, Claus Klingenberg, Raoul C Hennekam, Giuliano Torre, Masoud Garshasbi, Andreas Tzschach, Malgorzata Szczepanska, Marian Krawczynski, Jacek Zachwieja, Danuta Zwolinska, Philip L Beales, Hans-Hilger Ropers, Anna Latos-Bielenska, Andreas W Kuss

Journal: Am. J. Hum. Genet.. 2010 Jun;86(6):949-56.

 

Cranioectodermal dysplasia (CED) is a disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. Most cases reported to date are sporadic, but a few familial cases support an autosomal-recessive inheritance pattern. Aiming at the elucidation of the genetic basis ...

Last Updated: 31 Dec 1969

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A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia.
 

Author(s): T Eke, G Woodruff, I D Young

Journal: Br J Ophthalmol. 1996 May;80(5):490-1.

 

Last Updated: 31 Dec 1969

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Cranioectodermal dysplasia in sibs.
 

Author(s): G D Lang, I D Young

Journal: J. Med. Genet.. 1991 Jun;28(6):424.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cranioectodermal Dysplasia" returned 1 free, full-text review articles on human participants. First 3 results:

Cranioectodermal dysplasia (Sensenbrenner's syndrome).
 

Author(s): I D Young

Journal: J. Med. Genet.. 1989 Jun;26(6):393-6.

 

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.