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Syndactyly genomic research offers a family some control

The medical term for two or more fingers or toes that are fused together or “webbed” is syndactyly. Mild forms of this condition are one of the most common types of birth abnormality and it often runs in families. Rarer, more severe forms of syndactyly can significantly impair hand and foot function and have more far-reaching implications and often complex surgery is required.

A manageable, but highly visible condition

Syndactyly does not stop people from working and leading fulfilling lives – there are surgical procedures that help - but aesthetically it is a visible condition. One New Zealand family who is fully aware of the effects that syndactyly has on generations has been taking part in the Clinical Genomics project.

Three generations of the family have various forms of fusion of fingers and toes. The project participant's son has fused fingers and an extra finger, and has six toes, and had corrective surgery in Australia. Her father had two fingers on each hand amputated. Her sister had unsuccessful surgery on her hands as a baby. She shared with us her family’s experiences with syndactyly and why she took part in the project.

Generations are affected by syndactyly

"My father struggled with the stigma and that had an impact on the way he lived his life. I found out that my son had the condition via a scan when I was pregnant – which gave us plenty of warning. We were determined to instil a positive attitude in his upbringing, and his sense of humour has helped him through the social and practical aspects of having webbed fingers and toes. We were already aware this genetic condition was being passed on in our family. But what we didn't know how syndactyly was inherited and what that meant for future generations. What are the risks? Who would inherit and why would some not?"

"So, I jumped at the chance to understand more about the specific gene variant that caused this, in my family. Now that I know, I have to say it makes a difference. It hasn't made it go away; it's just given us slightly more control. There is a test to identify the gene and my daughters, and my extended family will now have the option of having the test to see if they are a carrier. It will be their choice to find out, if they have children."

Knowledge is power

"Every circumstance is different, but I believe knowledge is power. It was a positive experience and I'm pleased we went down this path – from this basic research we have more understanding of this genetic abnormality, and that will help our families, and other families also. I see knowing as control in an otherwise uncontrollable world, and that has given me some comfort."

"And who knows what will happen in the long-term – knowing more about the gene may allow drugs to target it, or it may direct future researchers to use CRISPR technology to edit it. I see genetics as the future of medicine, and our family has contributed to this in a small way."

It is extremely rewarding for the project team to have such an appreciation for the work they are doing and encourages the team to look for solutions for this woman, her family, and others in the community.