Robinow syndrome

• Published in: Journal of medical genetics 2002-05, Vol.39 (5), p.305-310
• Main Authors: Patton, M A, Afzal, A R
• Format: Article
• Language: English
• Subjects: Abnormalities; Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Animals; Arm - abnormalities; Arm - diagnostic imaging; Biological and medical sciences; BMP; bone morphogenic proteins; CRD cysteine rich domain; Defects; Diseases of the osteoarticular system; Dwarfism; Dwarfism - diagnosis; Dwarfism - genetics; Dwarfism - pathology; Facies; fetal facies; Fetus; Genetic disorders; Genotype; Genotype & phenotype; Humans; Hypotheses; immunoglobulin-like; Infant, Newborn; kringle domain; Ligands; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Mice; Mutation; Mutation, Missense; Penis - abnormalities; Phenotype; Proteins; Radiography; Rats; receptor tyrosine kinase; Receptor Tyrosine Kinase-like Orphan Receptors; Receptors, Cell Surface - genetics; Review; Ribs - abnormalities; Ribs - diagnostic imaging; Robinow syndrome; ROR2 gene; RTK; Spinal Cord - abnormalities; Spinal Cord - diagnostic imaging; Syndrome; tyrosine kinase
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.39.5.305

In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and “fetal facies”. Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal recessive form was identified as the ROR2 gene on chromosome 9q22. ROR2 is a receptor tyrosine kinase with orthologues in mouse and other species. The same gene, ROR2, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in ROR2.