Term Name: | autosomal recessive Robinow syndrome |
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Synonyms: | costovertebral segmentation defect-mesomelia syndrome, COVESDEM syndrome, RRS |
Definition: | A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. |
Ontology: | Human Disease [DOID:0060764] ( DOID:0060764 ) |