Spondylometaphyseal dysplasia axial

Common Name(s)

Spondylometaphyseal dysplasia axial

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term ÒaxialÓ means towards the center of the body. ÒSphondylosÓ is a Greek term meaning vertebra. ÒMetaphyseal dysplasiaÓ refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondylometaphyseal dysplasia axial" for support, advocacy or research.

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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 "Spondylometaphyseal dysplasia axial" returned 1 free, full-text research articles on human participants. First 3 results:

Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues.
 

Author(s): Eyal Reinstein, Ericka B Okenfuss, Isha Wadhawan, Yael Wilnai, Melanie Manning, David L Rimoin, Ralph S Lachman

Journal: J. Appl. Genet.. 2013 May;54(2):231-4.

 

Last Updated: 9 Apr 2013

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Symptoms, Diagnosis, and Treatment

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