This website provides information on patients with mutations in the DVL3 gene, including clinical data, molecular data, management, and research options.

Robinow Syndrome is caused by genetic variations in the genes belonging to non- canonical Wnt/planar cell polarity (PCP) signalling pathway- a pathway involved in cell polarity and movement during embryogenesis. The most common gene for autosomal dominant Robinow syndrome is DVL1, however in the last few years, other genes such as DVL3, WNT5A and FZD2 gene have also been identified to cause autosomal dominant Robinow syndrome. Due to characteristic facial phenotype resembling that of a fetus, this syndrome is also known as fetal face syndrome. The common features include prominent forehead, hypertelorism, broad nasal bridge, anteverted nares, and midface hypoplasia. Umbilical hernias and supernumerary teeth are exclusively reported in autosomal dominant forms of Robinow syndrome. Short stature can be observed in only a subset of individuals.

Severe short stature (Height <3rd centile) was initially thought to be a distinguishing feature of DVL3 associated Robinow syndrome but later a patient with low to normal stature was reported as well. Hence, the clinical features of autosomal dominant Robinow syndrome due to DVL3 variants is similar to DVL1 variants.

ROR2 and NXN have been identified as genes for autosomal recessive Robinow syndrome. Recently RAC3 and GPC4 genes have also been shown to be associated with syndromes with similar facial phenotype.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the DVL3 gene.

Dr Shubha R Phadke, MD, DM, Former Professor, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India; Consultant Medical Geneticist, Jupiter Hospital, Pune, India, shubharaophadke@gmail.com
Dr Somya Srivastava, MD, DM, Consultant, Cancer Genetics Unit, Tata Memorial Hospital, Mumbai, India, somyasrivastava18@gmail.com