This website provides information on patients with mutations in the ROR2 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. ROR2 gene is the first gene identified to cause Robinow syndrome, which due to characteristic facial phenotype resembling that of a fetus is also known as fetal face syndrome. Biallelic pathogenic variations in ROR2 gene gives rise to Robinow syndrome characterised by short stature with short limbs, predominantly mesomelic and acromelic. The heterozygous variant in ROR2 gene causes variable degree of brachydactyly involving distal and middle phalanges of digits 2 to 5. Intrafamilial variability of this type of brachydactyly (Type B1) due to ROR2 has been documented.
This syndrome is associated with short stature with characteristic facial phenotype reminiscent of fetal face and other features like vertebral anomalies, brachydactyly, genital hypoplasia, gingival hypertrophy. Some children may have developmental delay and intellectual disability. Not all individuals with a mutation in the ROR2 gene have these features.
There are 5 more genes for Robinow syndrome, namely, NXN for autosomal recessive Robinow syndrome and WNT5A, DVL1, 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 ROR2 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