Split hand malformation

Common Name(s)

Split hand malformation

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Split hand malformation" 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 "Split hand malformation" returned 31 free, full-text research articles on human participants. First 3 results:

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.
 

Author(s): Hana Lango Allen, Richard Caswell, Weijia Xie, Xiao Xu, Christopher Wragg, Peter D Turnpenny, Claire L S Turner, Michael N Weedon, Sian Ellard

Journal: J. Med. Genet.. 2014 Apr;51(4):264-7.

 

Split-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression. We report three individuals from two families with split-hand/split-foot malformation (SHFM) in whom next generation sequencing was performed to investigate the ...

Last Updated: 18 Mar 2014

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Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation.
 

Author(s): Pengjun Su, Yuhang Yuan, Ying Huang, Weilin Wang, Zhibo Zhang

Journal: Int J Colorectal Dis. 2013 Dec;28(12):1621-7.

 

The aims of this study were to identify the mutation gene of a Chinese family with anorectal malformation (ARM) associated with split hand-foot malformation and to determine the spatiotemporal expression of the mutated gene during hindgut and anorectum development in human embryos.

Last Updated: 15 Nov 2013

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Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.
 

Author(s): Li Dai, Ying Deng, Nana Li, Liang Xie, Meng Mao, Jun Zhu

Journal:

 

Split hand/foot malformation (SHFM) is a congenital disorder characterized by a cleft of the hands and/or feet due to dificiency of central rays. Genomic rearrangement at 10q24 has been found to cause nonsyndromic SHFM (SHFM3).

Last Updated: 26 Apr 2013

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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 "Split hand malformation" returned 1 free, full-text review articles on human participants. First 3 results:

Pathogenesis of split-hand/split-foot malformation.
 

Author(s): Pascal H G Duijf, Hans van Bokhoven, Han G Brunner

Journal: Hum. Mol. Genet.. 2003 Apr;12 Spec No 1():R51-60.

 

Split-hand/split-foot malformation (SHFM), also known as ectrodactyly, is a congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of the central rays. SHFM may occur as an isolated entity or as part of a syndrome. Both forms ...

Last Updated: 1 Apr 2003

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.