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 30 free, full-text research articles on human participants. First 3 results:

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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17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
 

Author(s): Christine M Armour, Dennis E Bulman, Olga Jarinova, Richard Curtis Rogers, Kate B Clarkson, Barbara R DuPont, Alka Dwivedi, Frank O Bartel, Laura McDonell, Charles E Schwartz, Kym M Boycott, David B Everman, Gail E Graham

Journal: Eur. J. Hum. Genet.. 2011 Nov;19(11):1144-51.

 

Split-hand/foot malformation with long-bone deficiency (SHFLD) is a relatively rare autosomal-dominant skeletal disorder, characterized by variable expressivity and incomplete penetrance. Although several chromosomal loci for SHFLD have been identified, the molecular basis and pathogenesis ...

Last Updated: 20 Oct 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 "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.