Split hand malformation

Common Name(s)

Split hand malformation

Description for this condition is not yet available.
 

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Condition Specific Organizations

Following organizations serve the condition "Split hand 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 malformation" returned 34 free, full-text research articles on human participants. First 3 results:

Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.
 

Author(s): Tonia C Carter, Robert J Sicko, Denise M Kay, Marilyn L Browne, Paul A Romitti, Zoё L Edmunds, Aiyi Liu, Ruzong Fan, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills

Journal: J. Hum. Genet.. 2017 Oct;62(10):877-884.

 

Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single-nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants ...

Last Updated: 31 Dec 1969

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Dlx5 Homeodomain:DNA Complex: Structure, Binding and Effect of Mutations Related to Split Hand and Foot Malformation Syndrome.
 

Author(s): Andrew Proudfoot, Herbert L Axelrod, Michael Geralt, Robert J Fletterick, Fumiaki Yumoto, Ashley M Deacon, Marc-André Elsliger, Ian A Wilson, Kurt Wüthrich, Pedro Serrano

Journal: J. Mol. Biol.. 2016 Mar;428(6):1130-1141.

 

The Dlx5 homeodomain is a transcription factor related to the Drosophila distal-less gene that is associated with breast and lung cancer, lymphoma, Rett syndrome and osteoporosis in humans. Mutations in the DLX5 gene have been linked to deficiencies in craniofacial and limb development ...

Last Updated: 31 Dec 1969

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Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation.
 

Author(s): Shen Gu, Jennifer E Posey, Bo Yuan, Claudia M B Carvalho, H M Luk, Kelly Erikson, Ivan F M Lo, Gordon K C Leung, Curtis R Pickering, Brian H Y Chung, James R Lupski

Journal: Hum. Mutat.. 2016 Feb;37(2):160-4.

 

Germline copy-number variants (CNVs) involving quadruplications are rare and the mechanisms generating them are largely unknown. Previously, we reported a 20-week gestation fetus with split-hand malformation; clinical microarray detected two maternally inherited triplications separated ...

Last Updated: 31 Dec 1969

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

Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development.
 

Author(s): Amar J S Klar

Journal: Philos. Trans. R. Soc. Lond., B, Biol. Sci.. 2016 12;371(1710):.

 

Genetic aberrations of several unlinked loci cause human congenital split hand/foot malformation (SHFM) development. Mutations of the DLX5 (distal-less) transcription factor-encoding gene in chromosome 7 cause SHFM through haploinsufficiency, but the vast majority of cases result ...

Last Updated: 31 Dec 1969

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Selective chromatid segregation mechanism proposed for the human split hand/foot malformation development by chromosome 2 translocations: A perspective.
 

Author(s): Amar J S Klar

Journal: Dev. Biol.. 2015 Dec;408(1):7-13.

 

Three unrelated chromosome 2q14.1-14.2 region translocations caused the split hand/foot limb malformation development in humans by an unknown mechanism. Their etiology was described by the autosomal dominant inheritance with incomplete penetrance genetic model although authors stated, ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
 

Status: Recruiting

Condition Summary: Freeman-Sheldon Syndrome; Arthrogryposis Distal Type 2A; Whistling Face Syndrome; Craniocarpotarsal Dysplasia; Craniocarpotarsal Dystrophy; Freeman-Sheldon Syndrome Variant; Sheldon-Hall Syndrome; Arthrogryposis Distal Type 2B; Gordon Syndrome; Arthrogryposis Distal Type 3; Arthrogryposis Distal Type 1; Arthrogryposis, Distal, Type 1A; Arthrogryposis Distal Type 1B; Arthrogryposis, Distal; Craniofacial Abnormalities; Arthrogryposis

 

Last Updated: 30 Mar 2018

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