Study of Limb Malformations

It is our main goal to understand the genetic changes that result in isolated limb malformations. The genetic cause of the vast majority of congenital malformations is unknown.

The recent development of new high throughput sequencing technologies in the field of human genetics enable us now to identify the changes in DNA that are causing isolated hand and foot malformations - i.e. malformations without any other clinical abnormality.

It is the aim of our study to unravel the genetic cause of these diverse malformations and to gain further insides into the function of individual genes important for limbdevelopment. Within the scope of this study we use the latest molecular methods for the diagnostics of changes of the genetic information.

For a broader understanding of the diverse limb malformations we are reliant on the help of affected individuals and their family members.

In case you are treating a patient featuring such malformations, in case your child is or you yourself are affected, we would be delighted if you contacted us.

For scientific reasons we deal with the diverse forms of limb malformations and their causes at the Institute of Medical Genetics and Human Genetics.

There are many different forms of limb malformations. These disorders, not only, comprise versatile hand and foot malformations, such as:

• polydactyly - the presence of supernumerous fingers or toes

• oligodactyly - less than 5 fingers or toes

• syndactyly - the fusion of two or more fingers or toes

• brachydactyly - shortness of fingers or toes

• ectrodactyly - a split hand or foot

• triphalangeal thumb - the thumb has three phalanges instead of two

But there may also be disorders of the long bones of the arms and/or legs, like shortness or absence of bones, the fusion of joints, complex reductive malformations or the presence of limb malformations in the context of skeletal dysplasias. Usually, limb malformations are isolated disorders, i.e. normally there are no other malformations or mental deficits.

Besides the written declaration of consent the participation in our study requires photographic documentation and blood or saliva sampling. We can then isolate DNA from blood or saliva samples and perform molecular genetic testing.

In many cases, it is necessary to also take blood or saliva samples of the parents for comparative analysis. All patient related information is subject to medical confidentiality and will be treated in the strictest confidence.

If you have any further questions, you are welcome to contact us anytime. We may then discuss the further procedures together.