Split hand/foot malformation X-linked
Other Names for this Disease
- Split hand foot deformity 2
- Split hand foot anomaly - X-linked
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 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.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.
Last updated: 1/22/2014
- Bianchi DW, Crombleholme T, D’Alton ME. Ectrodactyly. In: Bianchi DW et al.,. Fetology. Philadelphia, PA: McGraw-Hill; 2000;
- Duijf P, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Human Molecular Genetics. 2003;
- Elliott AM, Evans JA, Chudley AE. Split hand foot malformation. Clinical Genetics. December 2005; 68(6):501-5. http://www.ncbi.nlm.nih.gov/pubmed/16283879. Accessed 4/14/2011.
- The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
- More information on limb abnormalities can be found at the following link from MEDLINEplus, the National Library of Medicine Web site designed to help you research your health questions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Split hand/foot malformation X-linked. Click on the link to view a sample search on this topic.