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Cranioectodermal Dysplasia

Known as: Sensenbrenner Syndrome, Levin Syndrome I, CRANIOECTODERMAL DYSPLASIA 1 
An autosomal recessive disorder associated with mutation(s) in at least one of four genes (WDR35, IFT122, WDR19, or IFT43). It is characterized by… 
National Institutes of Health

Related topics

Related topics

23 relations
Autosomal recessive inheritanceBicuspid aortic valveBrachydactylyByzanthine arch palate

Broader (3)

Bone and BonesCraniosynostosisEctodermal Dysplasia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Extensions of a versatile randomization test for assessing single-case intervention effects.
2010
2010
Initial eccentricity fluctuations and their relation to higher-order flow harmonics
Monte Carlo simulations are used to compute the centrality dependence of the participant eccentricities ({var_epsilon}{sub n}) in… 
2010
2010
Glauber-based evaluations of the odd moments of the initial eccentricity relative to the even order participant planes
Monte Carlo simulations are used to compute the centrality dependence of the odd moments of the initial eccentricity {var_epsilon… 
2009
2009
Connective tissue involvement in two patients with features of cranioectodermal dysplasia
Cranioectodermal dysplasia (CED) is an infrequently described autosomal recessive disorder characterized by craniofacial… 
2006
2006
ATP-binding cassette transporter 1 and Transglutaminase 2 act on the same genetic pathway in the apoptotic cell clearance
ATP-binding cassette transporter 1 and Transglutaminase 2 act on the same genetic pathway in the apoptotic cell clearance 
2001
2001
Cranioectodermal Dysplasia: A New Patient with an Inapparent, Subtle Phenotype
Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life… 
2000
2000
[Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report].
PURPOSE Sensenbrenner syndrome or cranio-ectodermal dysplasia is an extremely rare autosomal recessive condition (12 cases… 
Review
1997
Review
1997
Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)
Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and… 
1993
1993
Phenotype of cranioectodermal dysplasia with different hair and bone abnormalities.
We report on a 3-year-old boy with hair abnormalities and a generalized bone dysplasia. He had very short, sparse hair and… 
Review
1992
Review
1992
Cranioectodermal dysplasia with sagittal craniosynostosis (Sensenbrenner's syndrome): case report and review of the literature.
We report the clinical features and neurosurgical management of a 9-month-old girl with cranioectodermal dysplasia and… 
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