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

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
 

Author(s): Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, Anna Sowinska-Seidler, Sandra C Doelken, Barbara Oehl-Jaschkowitz, Wiebke Hülsemann, Rolf Habenicht, Eva Klopocki, Stefan Mundlos, Malte Spielmann

Journal:

 

A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore termed exonic enhancers or "eExons".

Last Updated: 23 Sep 2014

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Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
 

Author(s): Xue Wang, Qian Xin, Lin Li, Jiangxia Li, Changwu Zhang, Rongfang Qiu, Chenmin Qian, Hailing Zhao, Yongchao Liu, Shan Shan, Jie Dang, Xianli Bian, Changshun Shao, Yaoqin Gong, Qiji Liu

Journal: Eur. J. Hum. Genet.. 2014 Sep;22(9):1105-10.

 

Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. ...

Last Updated: 14 Aug 2014

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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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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 2 free, full-text review articles on human participants. First 3 results:

Split-hand/foot malformation - molecular cause and implications in genetic counseling.
 

Author(s): Anna Sowińska-Seidler, Magdalena Socha, Aleksander Jamsheer

Journal: J. Appl. Genet.. 2014 Feb;55(1):105-15.

 

Split-hand/foot malformation (SHFM) is a congenital limb defect affecting predominantly the central rays of the autopod and occurs either as an isolated trait or part of a multiple congenital anomaly syndrome. SHFM is usually sporadic, familial forms are uncommon. The condition is ...

Last Updated: 3 Feb 2014

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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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