Learn About Split Hand Foot Malformation

What is the definition of 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 in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by genetic changes in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
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What are the alternative names for Split Hand Foot Malformation?
  • Split hand foot malformation
  • Ectrodactyly
  • SHFM
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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