Autosomal recessive Robinow syndrome (https://omim.org/entry/268310) is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000).
Genetic Heterogeneity of Robinow Syndrome
See also autosomal dominant Robinow syndrome-1 (DRS1; 180700), caused by mutation in the WNT5A gene (164975) on chromosome 3p; DRS2 (616331), caused by mutation in the DVL1 gene (601365) on chromosome 1p36; and DRS3 (616894), caused by mutation in the DVL3 gene (601368) on chromosome 3q27.