Robinow syndrome can be caused by many other genes other than DVL1 gene. An accurate diagnosis and correct interpretation of causative variants is very important. Nowadays, all genes can be tested by a high throughput sequencing technique known as Next Generation Sequencing (NGS). NGS will cover all genes for Robinow syndrome as well as for the many other syndromes with short stature and similar features. Simultaneous testing of parents helps in increasing the possibility of identifying correct DNA variant and hence accurate genetic counseling and prenatal diagnosis.
DVL1