There is some support that acrocephalosyndactyly occurs in an autosomal dominant mode, but the basic defect is still unknown. Evidence for this is that males and females are affected equally.
Nonetheless, almost all cases are sporadic, signifying that most are attributable to fresh mutations or an environmental insult to the genetic code. In 1995, A.O.M Wilkie, along with other researchers, published a paper showing evidence of a relationship between acrocephalosyndactyly and a gene, called Fibroblast Growth Factor Receptor 2, on chromosome 10.
There is also some evidence that the age of the father is related to this syndrome. This stands in stark contrast to Down Syndrome, where the age of the mother is positively correlated with the risk of having a child with the syndrome. It is speculated that older fathers are more likely to have mutations in the chromosomes of their sperm, but a correlation to this disorder has not been established through scientific research.
