Fibrochondrogenesis 2

Common Name(s)

Fibrochondrogenesis 2

Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by {1:Tompson et al., 2012}). For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 ({228520}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fibrochondrogenesis 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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.