Spondyloepiphyseal dysplasia tarda X-linked

Common Name(s)

Spondyloepiphyseal dysplasia tarda X-linked, Spondyloepiphyseal dysplasia tarda

X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that  affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloepiphyseal dysplasia tarda X-linked" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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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 "Spondyloepiphyseal dysplasia tarda X-linked" returned 8 free, full-text research articles on human participants. First 3 results:

X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.
 

Author(s): Hyejin Ryu, Joonhong Park, Hyojin Chae, Myungshin Kim, Yonggoo Kim, In-Young Ok

Journal: Ann Lab Med. 2012 May;32(3):234-7.

 

Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided ...

Last Updated: 7 May 2012

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A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
 

Author(s): Hong Guo, Xueqing Xu, Kai Wang, Bo Zhang, Guohong Deng, Yan Wang, Yun Bai

Journal: J. Genet.. 2009 Apr;88(1):87-91.

 

Last Updated: 6 May 2009

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Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
 

Author(s): Feng Xiong, Jianjun Gao, Jun Li, Yun Liu, Guoyin Feng, Wenli Fang, Hongfen Chang, Jiang Xie, Haitao Zheng, Tingyu Li, Lin He

Journal: Eur. J. Hum. Genet.. 2009 Apr;17(4):510-6.

 

X-linked spondyloepiphyseal dysplasia tarda can be caused by mutations in the SEDL gene. This study describes an interesting novel mutation (IVS4+1A>G) located exactly at the rare noncanonical AT-AC consensus splicing donor point of SEDL, which regained the canonical GT-AG consensus ...

Last Updated: 20 Mar 2009

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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 "Spondyloepiphyseal dysplasia tarda X-linked" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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