According to the site, SHFM is caused by abnormalities at one of the multiple loci, including SHFM1 (SHFM1 at 7q21-q22), SHFM2 (Xq26), SHFM3 (FBXW4/DACTYLIN at 10q24), SHFM4 (TP63 at 3q27), and SHFM5 (DLX1 and DLX 2 at 2q31). SHFM3 is caused by submicroscopic tandem chromosomal duplications of FBXW4/DACTYLIN. SHFM3 is considered 'isolated' ectrodactyly and does not show a mutation in the tp63 gene.
Autosomal dominant with reduced penetrance is the most common mode of transmission, although autosomal recessive and X-linked forms rarely occur. Ectrodactyly is caused also by duplication of 10q24. The inheritance of cleft hand is autosomal dominant with a variable penetrance of 70%. Therefore, if the parent has …show more content…
The function of a cleft hand is mostly not restricted, yet improving the function is one of the goals when the thumb or first webspace is absent. Children with ectrodactyly are not obligated to have surgery if the deformity is not too severe. However, if the child has cosmetic problems the doctor may advise having surgery when the child is 1-2 years old. People uses their hands for communication, but if one had different or deformity they could be rejected and ridiculed by society. When surgery is indicated, the choice of treatment is based on the classification. Techniques described by Ueba, Miura and Komada and the procedure of Snow-Littler are guidelines; since clinical and anatomical presentation within the types differs, the actual treatment is based on the individual