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.

More rarely other forms of inheritance have been reported (e.g., autosomal-recessive, X-linked, chromosome deletions, chromosome duplications).

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.

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.