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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • SHFM
  • Ectrodactyly
Home > Genetic & Rare Diseases Information Center (GARD) > Split hand foot malformation > Questions and Answers


Split hand foot malformation
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I have split hand foot malformation and would like to have children. Is there anything I can do to avoid the continuity of the syndrome?



  • What is split hand foot malformation? (Back to Top)

  • 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.[1][2] 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.[0] 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.
  • Last Reviewed: 4/14/2011

  • What causes split hand foot malformation? (Back to Top)

  • Split hand foot malformation may occur as an isolated feature or it may be associated with a genetic syndrome. Researchers believe that a large number of mutations can cause split hand foot malformation. A few of which have been identified: FBXW4 and TP63. Most commonly the conditions are passed through families in an autosomal dominant fashion with reduced penetrance. In autosomal dominant inheritance an affected parent would have a 1 in 2 or 50% chance with each pregnancy of passing the genetic defect to his/her offspring. In conditions with “reduced penetrance” a person who inherits the underlying genetic defect, may never develop the condition.[2]

    More rarely other forms of inheritance have been reported (e.g., autosomal-recessive, X-linked, chromosome deletions, chromosome duplications).[2]
  • Last Reviewed: 4/14/2011

  • What are the chances that my future children will also have split hand foot malformation? (Back to Top)

  • The chance that a child would inherit split hand foot malformation from a parent with this condition, depends on the type of split hand foot malformation in the parent and its underlying cause. Most cases of isolated split hand foot malformation are inherited in an autosomal dominant manner. Other forms of inheritance is possible. To learn more about your specific risks we recommend that you speak with a genetics professional.
  • Last Reviewed: 4/14/2011

  • Is there anything that can be done in order to avoid the continuity of this condition in my family?
     (Back to Top)

  • Today there are a number of genetic tests that can be used to inform a couple about the possible outcomes of a current or future pregnancy. Examples of two such tests are prenatal diagnosis and preimplantation genetic diagnosis (PGD). Prenatal diagnosis can be used to diagnose a condition in a developing fetus. Today, doctors are able to diagnose many more birth defects than they are able to treat before birth. If a fetus has a condition for which prenatal treatment is not possible, prenatal diagnosis may help parents prepare emotionally for the birth and to plan the delivery with their health care providers.[5] Parents can also use this information to make decisions regarding whether or not to continue the pregnancy. 

    PGD represents an alternative to prenatal diagnosis.[6] It is used following in vitro fertilization to diagnose a genetic disease or condition in embryos. Only embryos that do not carry the disease-causing mutation are implanted in the mother's womb. PGD allows testing to occur before a pregnancy begins.

    In many cases, the disease-causing mutation must be identified in an affected relative before PGD or prenatal diagnosis can be performed.

    You can learn more about these and other tests by visiting the links below to the view information on this topic developed by the Centre for Genetic Education and by the Genetics and Public Policy Center:
    http://www.genetics.com.au/pntbooklet.pdf
    http://www.dnapolicy.org/policy.issue.php?action=detail&issuebrief_id=7

    Couples considering these options should talk with their healthcare provider and a genetic professional. It is important that couples are fully informed of the risks and benefits of each testing option and also have an opportunity to explore their feelings and beliefs regarding the use of these technologies. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

    The following online resources can help you find a genetics professional in your community:  


  • Last Reviewed: 4/14/2011

  • How might split hand foot malformation be treated?
     (Back to Top)

  • No appropriate nonoperative treatment is available for split hand foot malformation, and prostheses have been largely abandoned except on occasions when they are requested for cosmetic purposes. The operative management must be individualized. In general, good pinch and grasp are the primary goals of surgery, followed by acceptable cosmetic appearance if possible. In planning the sequence and timing of surgery, patients should speak with their doctor and surgeon regarding their surgical options.[7]
  • Last Reviewed: 4/14/2011


References  (Back)
  1. Bianchi DW, Crombleholme T, D’Alton ME. Fetology. In: . Ectrodactyly. Philadelphia, PA:McGraw-Hill; 2000:
  2. Duijf P, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Human Molecular Genetics. 2003.
  3. Elliott AM, Evans JA, Chudley AE. Split hand foot malformation. Clinical Genetics. December 2005;68(6):501-5. Available at: http://www.ncbi.nlm.nih.gov/pubmed/16283879. April 14, 2011.
  4. Ectrodactyly. Online Mendelian Inheritance in Man. 2004 Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=225300. Accessed July 23, 2009.
  5. Chorionic Villus Sampling (CVS). March of Dimes. 2007 Available at: http://tinyurl.com/lffsqs. Accessed July 23, 2009.
  6. Hanna KE. Reproductive genetic testing. National Human Genome Research Institute. 2006 Available at: http://www.genome.gov/10004766. Accessed July 23, 2009.
  7. . Canale: Campbell's Operative Orthopaedics, 10th ed. Philadelphia, PA: Mosby, Inc; 2003.

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