Advances in genetics have greatly increased our understanding of how DNA mutations can lead to isolated limb malformations — limb malformations that occur separately from any other clinical problems. Many studies suggest that mutations responsible for isolated limb malformations can occur in regions that regulate genes that are important for limb development. These regions are called "enhancers" and activate genes at the right time and place. If there is a mutation in the enhancer, the gene is not turned "on" properly. Our research is focused on identifying enhancers that are important for limb development and identifying mutations in these enhancers that could be responsible for isolated limb malformations.
For our study we are looking for individuals with isolated limb malformations. We are looking for anyone with syndactyly (fused or webbed fingers/toes), polydactyly (>5 fingers/toes), split hand and foot also called ectrodactyly, reduction anomalies (<5 fingers/toes), brachydactyly (short fingers/toes), clinodactyly (bent pinky fingers), arachnodactyly (extra long fingers), camptodactyly (flexed fingers), club foot, congenital radioulnar synostosis, or congenital radial head dislocation.
Participation in our study involves:
Patient privacy is very important to us and all information and samples are kept confidential. Please see our FAQ section for more detailed information.