Diaphanospondylodysostosis

Common Name(s)

Diaphanospondylodysostosis

Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by {1:Funari et al., 2010}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "Diaphanospondylodysostosis" returned 2 free, full-text research articles on human participants. First 3 results:

Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis.
 

Author(s): Sarah K Tasian, Grace E Kim, Douglas N Miniati, Steven G DuBois

Journal: J. Pediatr. Hematol. Oncol.. 2012 Oct;34(7):548-51.

 

Diaphanospondylodysostosis (DSD) is a rare skeletal dysplasia syndrome resulting from disordered mesenchymal differentiation. Children with DSD generally die in utero or during the first month of life from severe thoracic insufficiency syndrome. An association of DSD with nephroblastomatosis ...

Last Updated: 25 Sep 2012

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BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
 

Author(s): Vincent A Funari, Deborah Krakow, Lisette Nevarez, Zugen Chen, Tara L Funari, Nithiwat Vatanavicharn, William R Wilcox, David L Rimoin, Stanley F Nelson, Daniel H Cohn

Journal: Am. J. Hum. Genet.. 2010 Oct;87(4):532-7.

 

Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. The low frequency and perinatal lethality of DSD makes assembling a large set of families for traditional linkage-based genetic approaches challenging. By searching for evidence ...

Last Updated: 5 Oct 2010

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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 "Diaphanospondylodysostosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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