Spondylometaphyseal dysplasia Kozlowski type

Common Name(s)

Spondylometaphyseal dysplasia Kozlowski type

Spondylometaphyseal dysplasia Kozlowski type is a type of rare hereditary disorder which affects bone growth. Kozlowski syndrome is the most common type of spondylometaphyseal dysplasia. Affected individuals have arms and legs longer in proportion to their body trunk. Spondylo means spine. Only the spine and bone ends (metaphyseal) are affected, though there are some associated hip problems. It is a very rare form of short-trunk dwarfism and one of the more mild forms of dwarfism. About less than one in a million are affected.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondylometaphyseal dysplasia Kozlowski type" 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 "Spondylometaphyseal dysplasia Kozlowski type" returned 2 free, full-text research articles on human participants. First 3 results:

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
 

Author(s): Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L Funari, Carlos A Bacino, Mira B Irons, Ingrid A Holm, Laurie Sadler, Ericka B Okenfuss, Annelies Janssens, Thomas Voets, David L Rimoin, Ralph S Lachman, Bernd Nilius, Daniel H Cohn

Journal: Am. J. Hum. Genet.. 2009 Mar;84(3):307-15.

 

The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMD Kozlowski type (SMDK) is a well-defined autosomal-dominant SMD characterized by significant scoliosis and mild ...

Last Updated: 13 Mar 2009

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[Spondylometaphyseal dysplasia type Kozlowski detected in family low body height].
 

Author(s): I Díez López, A Rodríguez Estévez, A Marí Gonzalo, J M Santoloya Jiménez

Journal: Radiologia. ;50(2):174.

 

Last Updated: 27 Mar 2008

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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 "Spondylometaphyseal dysplasia Kozlowski type" returned 1 free, full-text review articles on human participants. First 3 results:

Kozlowski type spondylometaphyseal dysplasia: a case report with literature review.
 

Author(s): Mehmet Selim Nural, H Bariş Diren, Ozgür Sakarya, Türkay Yalin, Ayhan Dağdemir

Journal: Diagn Interv Radiol. 2006 Jun;12(2):70-3.

 

Spondylometaphyseal dysplasia is a type of bone dysplasia characterized by vertebral and metaphyseal changes of varying severity. Diagnosis of the disease is difficult because the severity of bone involvement differs and symptoms change according to the age of the patient. In this ...

Last Updated: 5 Jun 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.