This website provides information on patients with mutations in the DVL1 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) signaling pathway- a pathway involved in cell polarity and movement during embryogenesis. DVL1 gene is the commonest gene 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.
The characteristic radiological features of individuals with DVL1 sequence variations include typical metacarpophalangeal pattern (hypoplastic distal and middle phalanges, bifid distal phalanges, modelling deformity of metacarpals), mesomelia and age-dependent progressive generalized osteosclerosis with or without undertubulation. Rib fusion is absent and vertebral defects are less frequent.
Not all individuals with a mutation in the DVL1 gene have these features.
There are few more genes for Robinow syndrome, namely, ROR2 and NXN for autosomal recessive Robinow syndrome and WNT5A, DVL3 and FZD2 for autosomal dominant varieties of 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 DVL1 gene.
Shubha R Phadke, MD, DM, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India, firstname.lastname@example.org
A Haseena, MD, DM, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India, email@example.com