Split hand foot malformation

Common Name(s)

Split hand foot malformation

Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
 

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Condition Specific Organizations

Following organizations serve the condition "Split hand foot malformation" 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 "Split hand foot 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 foot 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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