synpolydactyly
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Introduction
term may be used synonymously with synpolydactyly type II
Genetics
- chromosomal translocation involving RASSF8 t(12;22)(p11.2;q13.3) with FBLN1 is found in a complex type of synpolydactyly
- autosomal dominant trait with reduced penetrance associated with defects in HOXD13
Clinical manifestations
- associated polydactyly & syndactyly
- limb malformation that shows a characteristic manifestation in both hands & feet