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 33 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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Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
 

Author(s): Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew A Dwyer, Gerasimos P Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gerard, Juliane Leger, Valérie Drouin-Garraud, Hervé Lefebvre, Michel Polak, Jean-Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolas de Roux, Nelly Pitteloud

Journal: Genet. Med.. 2015 Aug;17(8):651-9.

 

Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two.

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 foot 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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