Spondyloepimetaphyseal dysplasia joint laxity

Common Name(s)

Spondyloepimetaphyseal dysplasia joint laxity

Spondyloepimetaphyseal dysplasia joint laxity is a rare hereditary growth disorder which is characterized by dwarfism, abnormal alignment of the spine and tendency for joint dislocation. The condition can affect the development and growth of the spine leading to paraplegia, meaning the loss of strength in arms and legs. It may also affect development of the lungs and heart leading to life-threatening breathing complications and/or heart failure. Survival to adulthood is unusual.

The condition has been reported primarily in South Africa, however there have been reports of a small number of cases of spondyloepimetaphyseal dysplasia joint laxity in Europe, North America, and South America.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloepimetaphyseal dysplasia joint laxity" 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 "Spondyloepimetaphyseal dysplasia joint laxity" returned 1 free, full-text research articles on human participants. First 3 results:

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
 

Author(s): Byung-Joo Min, Namshin Kim, Taesu Chung, Ok-Hwa Kim, Gen Nishimura, Chin Youb Chung, Hae Ryong Song, Hyun Woo Kim, Hye Ran Lee, Jiwoong Kim, Tae-Hoon Kang, Myung-Eui Seo, San-Deok Yang, Do-Hwan Kim, Seung-Bok Lee, Jong-Il Kim, Jeong-Sun Seo, Ji-Yeob Choi, Daehee Kang, Dongsup Kim, Woong-Yang Park, Tae-Joon Cho

Journal: Am. J. Hum. Genet.. 2011 Dec;89(6):760-6.

 

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), leptodactylic (lepto-SEMDJL) or Hall type, is an autosomal-dominant skeletal dysplasia manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity. Its causative gene mutation ...

Last Updated: 13 Dec 2011

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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 "Spondyloepimetaphyseal dysplasia joint laxity" returned 1 free, full-text review articles on human participants. First 3 results:

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
 

Author(s): P Beighton

Journal: J. Med. Genet.. 1994 Feb;31(2):136-40.

 

Last Updated: 16 Jun 1994

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.