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Split hand foot malformation
Other Names for this Disease
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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.
- 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. http://www.ncbi.nlm.nih.gov/pubmed/16283879. Accessed April 14, 2011.
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