Kniest dysplasia

Common Name(s)

Kniest dysplasia, Kniest Syndrome

Kniest dysplasia is a rare disorder characterized by abnormal bone development. Those with Kniest dysplasia tend to have heights ranging from 42 to 58 inches. Symptoms may include large joints that make movement more difficult. Later on, the symptom of large joints may lead to arthritis. Other skeletal features of Kniest dysplasia include a rounded upper back that curves to the side, flattened bones of the spine, long fingers, and turning in of the foot. Those with Kniest dysplasia may also have vision and hearing problems. Vision problems are more commonly nearsightedness, while less common vision problems may include tearing of the back lining of the eye. Hearing problems may result from frequent ear infections as a young child.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kniest dysplasia" 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 "Kniest dysplasia" returned 6 free, full-text research articles on human participants. First 3 results:

[Kniest dysplasia].
 

Author(s): Nadia Ben Jamaâ, Aida Masmoudi, Chiraz Ghaffari, Walid Limam, Soumeya Siala-Gaigi

Journal: Tunis Med. 2012 Dec;90(12):902-3.

 

Last Updated: 18 Dec 2012

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Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
 

Author(s): M A Weis, D J Wilkin, H J Kim, W R Wilcox, R S Lachman, D L Rimoin, D H Cohn, D R Eyre

Journal: J. Biol. Chem.. 1998 Feb;273(8):4761-8.

 

Type II collagen mutations have been identified in a phenotypic continuum of chondrodysplasias that range widely in clinical severity. They include achondrogenesis type II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia, Kniest dysplasia, ...

Last Updated: 19 Mar 1998

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The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
 

Author(s): A Winterpacht, A Superti-Furga, U Schwarze, H Stöss, B Steinmann, J Spranger, B Zabel

Journal: J. Med. Genet.. 1996 Aug;33(8):649-54.

 

We have identified an 18 bp deletion in exon 49 of the type II procollagen gene (COL2A1) in a patient with Kniest dysplasia. The deletion is located at the very C-terminus of the helical domain and removes two of three Gly-Pro-Pro triplets at positions 1007-1012, which are thought ...

Last Updated: 27 Dec 1996

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Reviews from the PubMed Database

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The terms "Kniest dysplasia" 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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