What are the Genetics of Syndactyly?
Several candidate genes and chromosomal regions have been discovered that may contribute to the various types of syndactyly. There is so much that is unknown, including the number and types of genes, and the nature of the mutations that cause syndactyly, or how those mutations cause the abnormality. • Syndactyly type 1 is the most common type of isolated syndactyly, and there is complete or partial webbing between the third and fourth fingers and/or the second and third toes. A region on chromosome two that is near to the HOXD cluster has been identified as containing a possible candidate gene. • Syndactyly type 2 where webbing can occur between the third and fourth fingers, and there may be an additional digit, can be caused by mutations in the HOX 13 gene on chromosome two. Hox genes are the pattern formation genes that are involved in controlling how body patterns are laid down and ensuring that our body parts such as limbs are in the correct place. There are numerous genes involved
