Robinow syndrome.
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.
Patton
M A
MA
Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK.
Afzal
A R
AR
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D000818:Animals; D001132:Arm / Q000002:abnormalities / Q000000981:diagnostic imaging; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D019066:Facies; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D051379:Mice; D020125:Mutation, Missense; D010413:Penis / Q000002:abnormalities; D010641:Phenotype; D011859:Radiography; D051381:Rats; D057050:Receptor Tyrosine Kinase-like Orphan Receptors; D011956:Receptors, Cell Surface / Q000235:genetics; D012272:Ribs / Q000002:abnormalities / Q000000981:diagnostic imaging; D013116:Spinal Cord / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome
D011956:Receptors, Cell Surface; C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors